SNP Links for Protein (Select 372266180) - SNP

Select item 14880299551.

rs1488029955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:28717415 (GRCh38)
17:27044433 (GRCh37)
Canonical SPDI:: NC_000017.11:28717414:T:G
Gene:: RAB34 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28717415T>G, NC_000017.10:g.27044433T>G, NM_031934.6:c.-149A>C, NM_031934.5:c.-149A>C, NM_001256281.3:c.294A>C, NM_001256281.2:c.294A>C, NM_001256281.1:c.294A>C, NM_001144942.2:c.-149A>C, NM_001144942.1:c.-149A>C, XM_024450990.2:c.-327A>C, XM_024450990.1:c.-327A>C, NM_001256277.2:c.-149A>C, NM_001256277.1:c.-149A>C, NM_001256276.2:c.-149A>C, NM_001256276.1:c.-149A>C, NR_024574.1:n.454A>C, NR_024578.1:n.454A>C, XM_047436878.1:c.-149A>C, NR_024575.1:n.123A>C, XM_047436877.1:c.-149A>C, XM_047436881.1:c.-149A>C, NR_024579.1:n.123A>C, NM_001136045.1:c.-149A>C, XM_047436882.1:c.-149A>C, XM_047436884.1:c.-149A>C, XM_047436886.1:c.-149A>C, NP_001243210.1:p.Arg98Ser

Select item 14821243802.

rs1482124380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:28717610 (GRCh38)
17:27044628 (GRCh37)
Canonical SPDI:: NC_000017.11:28717609:C:A,NC_000017.11:28717609:C:T
Gene:: RAB34 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28717610C>A, NC_000017.11:g.28717610C>T, NC_000017.10:g.27044628C>A, NC_000017.10:g.27044628C>T, NM_031934.6:c.-344G>T, NM_031934.6:c.-344G>A, NM_031934.5:c.-344G>T, NM_031934.5:c.-344G>A, NM_001256281.3:c.99G>T, NM_001256281.3:c.99G>A, NM_001256281.2:c.99G>T, NM_001256281.2:c.99G>A, NM_001256281.1:c.99G>T, NM_001256281.1:c.99G>A, NM_001144942.2:c.-344G>T, NM_001144942.2:c.-344G>A, NM_001144942.1:c.-344G>T, NM_001144942.1:c.-344G>A, XM_024450990.2:c.-522G>T, XM_024450990.2:c.-522G>A, XM_024450990.1:c.-522G>T, XM_024450990.1:c.-522G>A, NR_024574.1:n.259G>T, NR_024574.1:n.259G>A, NR_024578.1:n.259G>T, NR_024578.1:n.259G>A

Select item 14813526463.

rs1481352646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28717422 (GRCh38)
17:27044440 (GRCh37)
Canonical SPDI:: NC_000017.11:28717421:G:A
Gene:: RAB34 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28717422G>A, NC_000017.10:g.27044440G>A, NM_031934.6:c.-156C>T, NM_031934.5:c.-156C>T, NM_001256281.3:c.287C>T, NM_001256281.2:c.287C>T, NM_001256281.1:c.287C>T, NM_001144942.2:c.-156C>T, NM_001144942.1:c.-156C>T, XM_024450990.2:c.-334C>T, XM_024450990.1:c.-334C>T, NM_001256277.2:c.-156C>T, NM_001256277.1:c.-156C>T, NM_001256276.2:c.-156C>T, NM_001256276.1:c.-156C>T, NR_024574.1:n.447C>T, NR_024578.1:n.447C>T, XM_047436878.1:c.-156C>T, NR_024575.1:n.116C>T, XM_047436877.1:c.-156C>T, XM_047436881.1:c.-156C>T, NR_024579.1:n.116C>T, NM_001136045.1:c.-156C>T, XM_047436882.1:c.-156C>T, XM_047436884.1:c.-156C>T, XM_047436886.1:c.-156C>T, NP_001243210.1:p.Ser96Phe

Select item 14807330464.

rs1480733046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28717432 (GRCh38)
17:27044450 (GRCh37)
Canonical SPDI:: NC_000017.11:28717431:C:T
Gene:: RAB34 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000106/2 (TOMMO)
HGVS:: NC_000017.11:g.28717432C>T, NC_000017.10:g.27044450C>T, NM_031934.6:c.-166G>A, NM_031934.5:c.-166G>A, NM_001256281.3:c.277G>A, NM_001256281.2:c.277G>A, NM_001256281.1:c.277G>A, NM_001144942.2:c.-166G>A, NM_001144942.1:c.-166G>A, XM_024450990.2:c.-344G>A, XM_024450990.1:c.-344G>A, NR_024574.1:n.437G>A, NR_024578.1:n.437G>A, NP_001243210.1:p.Val93Ile

Select item 14774100545.

rs1477410054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:28717505 (GRCh38)
17:27044523 (GRCh37)
Canonical SPDI:: NC_000017.11:28717504:C:G
Gene:: RAB34 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000017.11:g.28717505C>G, NC_000017.10:g.27044523C>G, NM_031934.6:c.-239G>C, NM_031934.5:c.-239G>C, NM_001256281.3:c.204G>C, NM_001256281.2:c.204G>C, NM_001256281.1:c.204G>C, NM_001144942.2:c.-239G>C, NM_001144942.1:c.-239G>C, XM_024450990.2:c.-417G>C, XM_024450990.1:c.-417G>C, NR_024574.1:n.364G>C, NR_024578.1:n.364G>C

Select item 14770514326.

rs1477051432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:28716977 (GRCh38)
17:27043995 (GRCh37)
Canonical SPDI:: NC_000017.11:28716976:G:A,NC_000017.11:28716976:G:C
Gene:: RAB34 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
C=0.000283/5 (TOMMO)
HGVS:: NC_000017.11:g.28716977G>A, NC_000017.11:g.28716977G>C, NC_000017.10:g.27043995G>A, NC_000017.10:g.27043995G>C, NM_031934.6:c.72C>T, NM_031934.6:c.72C>G, NM_031934.5:c.72C>T, NM_031934.5:c.72C>G, NM_001256281.3:c.514C>T, NM_001256281.3:c.514C>G, NM_001256281.2:c.514C>T, NM_001256281.2:c.514C>G, NM_001256281.1:c.514C>T, NM_001256281.1:c.514C>G, NM_001144942.2:c.72C>T, NM_001144942.2:c.72C>G, NM_001144942.1:c.72C>T, NM_001144942.1:c.72C>G, NM_001256277.2:c.72C>T, NM_001256277.2:c.72C>G, NM_001256277.1:c.72C>T, NM_001256277.1:c.72C>G, XM_024450973.2:c.243C>T, XM_024450973.2:c.243C>G, XM_024450973.1:c.243C>T, XM_024450973.1:c.243C>G, XM_024450975.2:c.243C>T, XM_024450975.2:c.243C>G, XM_024450975.1:c.243C>T, XM_024450975.1:c.243C>G, NM_001142624.2:c.243C>T, NM_001142624.2:c.243C>G, NM_001256276.2:c.72C>T, NM_001256276.2:c.72C>G, NM_001256276.1:c.72C>T, NM_001256276.1:c.72C>G, XM_024450976.2:c.243C>T, XM_024450976.2:c.243C>G, XM_024450976.1:c.243C>T, XM_024450976.1:c.243C>G, XM_024450984.2:c.72C>T, XM_024450984.2:c.72C>G, XM_024450984.1:c.72C>T, XM_024450984.1:c.72C>G, NM_001142625.2:c.243C>T, NM_001142625.2:c.243C>G, NR_024574.1:n.674C>T, NR_024574.1:n.674C>G, NR_024578.1:n.674C>T, NR_024578.1:n.674C>G, XM_047436878.1:c.72C>T, XM_047436878.1:c.72C>G, NR_024575.1:n.343C>T, NR_024575.1:n.343C>G, XM_047436877.1:c.72C>T, XM_047436877.1:c.72C>G, XM_047436881.1:c.72C>T, XM_047436881.1:c.72C>G, NR_024579.1:n.343C>T, NR_024579.1:n.343C>G, NM_001136045.1:c.72C>T, NM_001136045.1:c.72C>G, XM_047436882.1:c.72C>T, XM_047436882.1:c.72C>G, XM_047436884.1:c.72C>T, XM_047436884.1:c.72C>G, NM_001144943.1:c.243C>T, NM_001144943.1:c.243C>G, XM_047436886.1:c.72C>T, XM_047436886.1:c.72C>G, XM_047436879.1:c.72C>T, XM_047436879.1:c.72C>G, XM_047436876.1:c.243C>T, XM_047436876.1:c.243C>G, XM_047436883.1:c.72C>T, XM_047436883.1:c.72C>G, XM_047436885.1:c.72C>T, XM_047436885.1:c.72C>G, NP_001243210.1:p.Arg172Cys, NP_001243210.1:p.Arg172Gly

Select item 14769486167.

rs1476948616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:28717657 (GRCh38)
17:27044675 (GRCh37)
Canonical SPDI:: NC_000017.11:28717656:C:A,NC_000017.11:28717656:C:T
Gene:: RAB34 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28717657C>A, NC_000017.11:g.28717657C>T, NC_000017.10:g.27044675C>A, NC_000017.10:g.27044675C>T, NM_031934.6:c.-391G>T, NM_031934.6:c.-391G>A, NM_031934.5:c.-391G>T, NM_031934.5:c.-391G>A, NM_001256281.3:c.52G>T, NM_001256281.3:c.52G>A, NM_001256281.2:c.52G>T, NM_001256281.2:c.52G>A, NM_001256281.1:c.52G>T, NM_001256281.1:c.52G>A, NM_001144942.2:c.-391G>T, NM_001144942.2:c.-391G>A, NM_001144942.1:c.-391G>T, NM_001144942.1:c.-391G>A, XM_024450990.2:c.-569G>T, XM_024450990.2:c.-569G>A, XM_024450990.1:c.-569G>T, XM_024450990.1:c.-569G>A, NR_024574.1:n.212G>T, NR_024574.1:n.212G>A, NR_024578.1:n.212G>T, NR_024578.1:n.212G>A, NP_001243210.1:p.Val18Phe, NP_001243210.1:p.Val18Ile

Select item 14722701748.

rs1472270174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28717222 (GRCh38)
17:27044240 (GRCh37)
Canonical SPDI:: NC_000017.11:28717221:C:T
Gene:: RAB34 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28717222C>T, NC_000017.10:g.27044240C>T, NM_031934.6:c.45G>A, NM_031934.5:c.45G>A, NM_001256281.3:c.487G>A, NM_001256281.2:c.487G>A, NM_001256281.1:c.487G>A, NM_001144942.2:c.45G>A, NM_001144942.1:c.45G>A, XM_024450990.2:c.-134G>A, XM_024450990.1:c.-134G>A, NM_001256277.2:c.45G>A, NM_001256277.1:c.45G>A, XM_024450973.2:c.216G>A, XM_024450973.1:c.216G>A, XM_024450975.2:c.216G>A, XM_024450975.1:c.216G>A, NM_001142624.2:c.216G>A, NM_001256276.2:c.45G>A, NM_001256276.1:c.45G>A, XM_024450976.2:c.216G>A, XM_024450976.1:c.216G>A, XM_024450984.2:c.45G>A, XM_024450984.1:c.45G>A, NM_001142625.2:c.216G>A, NR_024574.1:n.647G>A, NR_024578.1:n.647G>A, XM_047436878.1:c.45G>A, NR_024575.1:n.316G>A, XM_047436877.1:c.45G>A, XM_047436881.1:c.45G>A, NR_024579.1:n.316G>A, NM_001136045.1:c.45G>A, XM_047436882.1:c.45G>A, XM_047436884.1:c.45G>A, NM_001144943.1:c.216G>A, XM_047436886.1:c.45G>A, XM_047436879.1:c.45G>A, XM_047436876.1:c.216G>A, XM_047436883.1:c.45G>A, XM_047436885.1:c.45G>A, NP_001243210.1:p.Ala163Thr

Select item 14694634149.

rs1469463414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:28717617 (GRCh38)
17:27044635 (GRCh37)
Canonical SPDI:: NC_000017.11:28717616:G:T
Gene:: RAB34 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28717617G>T, NC_000017.10:g.27044635G>T, NM_031934.6:c.-351C>A, NM_031934.5:c.-351C>A, NM_001256281.3:c.92C>A, NM_001256281.2:c.92C>A, NM_001256281.1:c.92C>A, NM_001144942.2:c.-351C>A, NM_001144942.1:c.-351C>A, XM_024450990.2:c.-529C>A, XM_024450990.1:c.-529C>A, NR_024574.1:n.252C>A, NR_024578.1:n.252C>A, NP_001243210.1:p.Thr31Asn

Select item 146488566210.

rs1464885662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28717441 (GRCh38)
17:27044459 (GRCh37)
Canonical SPDI:: NC_000017.11:28717440:G:A
Gene:: RAB34 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.28717441G>A, NC_000017.10:g.27044459G>A, NM_031934.6:c.-175C>T, NM_031934.5:c.-175C>T, NM_001256281.3:c.268C>T, NM_001256281.2:c.268C>T, NM_001256281.1:c.268C>T, NM_001144942.2:c.-175C>T, NM_001144942.1:c.-175C>T, XM_024450990.2:c.-353C>T, XM_024450990.1:c.-353C>T, NR_024574.1:n.428C>T, NR_024578.1:n.428C>T, NP_001243210.1:p.Pro90Ser

Select item 146364152311.

rs1463641523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:28717462 (GRCh38)
17:27044480 (GRCh37)
Canonical SPDI:: NC_000017.11:28717461:C:A
Gene:: RAB34 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000013/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28717462C>A, NC_000017.10:g.27044480C>A, NM_031934.6:c.-196G>T, NM_031934.5:c.-196G>T, NM_001256281.3:c.247G>T, NM_001256281.2:c.247G>T, NM_001256281.1:c.247G>T, NM_001144942.2:c.-196G>T, NM_001144942.1:c.-196G>T, XM_024450990.2:c.-374G>T, XM_024450990.1:c.-374G>T, NR_024574.1:n.407G>T, NR_024578.1:n.407G>T, NP_001243210.1:p.Val83Leu

Select item 146334836212.

rs1463348362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:28717520 (GRCh38)
17:27044538 (GRCh37)
Canonical SPDI:: NC_000017.11:28717519:G:A,NC_000017.11:28717519:G:C
Gene:: RAB34 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.28717520G>A, NC_000017.11:g.28717520G>C, NC_000017.10:g.27044538G>A, NC_000017.10:g.27044538G>C, NM_031934.6:c.-254C>T, NM_031934.6:c.-254C>G, NM_031934.5:c.-254C>T, NM_031934.5:c.-254C>G, NM_001256281.3:c.189C>T, NM_001256281.3:c.189C>G, NM_001256281.2:c.189C>T, NM_001256281.2:c.189C>G, NM_001256281.1:c.189C>T, NM_001256281.1:c.189C>G, NM_001144942.2:c.-254C>T, NM_001144942.2:c.-254C>G, NM_001144942.1:c.-254C>T, NM_001144942.1:c.-254C>G, XM_024450990.2:c.-432C>T, XM_024450990.2:c.-432C>G, XM_024450990.1:c.-432C>T, XM_024450990.1:c.-432C>G, NR_024574.1:n.349C>T, NR_024574.1:n.349C>G, NR_024578.1:n.349C>T, NR_024578.1:n.349C>G

Select item 145747636813.

rs1457476368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28716968 (GRCh38)
17:27043986 (GRCh37)
Canonical SPDI:: NC_000017.11:28716967:G:A
Gene:: RAB34 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.28716968G>A, NC_000017.10:g.27043986G>A, NM_031934.6:c.81C>T, NM_031934.5:c.81C>T, NM_001256281.3:c.523C>T, NM_001256281.2:c.523C>T, NM_001256281.1:c.523C>T, NM_001144942.2:c.81C>T, NM_001144942.1:c.81C>T, NM_001256277.2:c.81C>T, NM_001256277.1:c.81C>T, XM_024450973.2:c.252C>T, XM_024450973.1:c.252C>T, XM_024450975.2:c.252C>T, XM_024450975.1:c.252C>T, NM_001142624.2:c.252C>T, NM_001256276.2:c.81C>T, NM_001256276.1:c.81C>T, XM_024450976.2:c.252C>T, XM_024450976.1:c.252C>T, XM_024450984.2:c.81C>T, XM_024450984.1:c.81C>T, NM_001142625.2:c.252C>T, NR_024574.1:n.683C>T, NR_024578.1:n.683C>T, XM_047436878.1:c.81C>T, NR_024575.1:n.352C>T, XM_047436877.1:c.81C>T, XM_047436881.1:c.81C>T, NR_024579.1:n.352C>T, NM_001136045.1:c.81C>T, XM_047436882.1:c.81C>T, XM_047436884.1:c.81C>T, NM_001144943.1:c.252C>T, XM_047436886.1:c.81C>T, XM_047436879.1:c.81C>T, XM_047436876.1:c.252C>T, XM_047436883.1:c.81C>T, XM_047436885.1:c.81C>T, NP_001243210.1:p.Arg175Trp

Select item 145618095114.

rs1456180951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:28717336 (GRCh38)
17:27044354 (GRCh37)
Canonical SPDI:: NC_000017.11:28717335:G:A,NC_000017.11:28717335:G:T
Gene:: RAB34 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.28717336G>A, NC_000017.11:g.28717336G>T, NC_000017.10:g.27044354G>A, NC_000017.10:g.27044354G>T, NM_031934.6:c.-70C>T, NM_031934.6:c.-70C>A, NM_031934.5:c.-70C>T, NM_031934.5:c.-70C>A, NM_001256281.3:c.373C>T, NM_001256281.3:c.373C>A, NM_001256281.2:c.373C>T, NM_001256281.2:c.373C>A, NM_001256281.1:c.373C>T, NM_001256281.1:c.373C>A, NM_001144942.2:c.-70C>T, NM_001144942.2:c.-70C>A, NM_001144942.1:c.-70C>T, NM_001144942.1:c.-70C>A, XM_024450990.2:c.-248C>T, XM_024450990.2:c.-248C>A, XM_024450990.1:c.-248C>T, XM_024450990.1:c.-248C>A, NM_001256277.2:c.-70C>T, NM_001256277.2:c.-70C>A, NM_001256277.1:c.-70C>T, NM_001256277.1:c.-70C>A, NM_001256276.2:c.-70C>T, NM_001256276.2:c.-70C>A, NM_001256276.1:c.-70C>T, NM_001256276.1:c.-70C>A, NR_024574.1:n.533C>T, NR_024574.1:n.533C>A, NR_024578.1:n.533C>T, NR_024578.1:n.533C>A, XM_047436878.1:c.-70C>T, XM_047436878.1:c.-70C>A, NR_024575.1:n.202C>T, NR_024575.1:n.202C>A, XM_047436877.1:c.-70C>T, XM_047436877.1:c.-70C>A, XM_047436881.1:c.-70C>T, XM_047436881.1:c.-70C>A, NR_024579.1:n.202C>T, NR_024579.1:n.202C>A, NM_001136045.1:c.-70C>T, NM_001136045.1:c.-70C>A, XM_047436882.1:c.-70C>T, XM_047436882.1:c.-70C>A, XM_047436884.1:c.-70C>T, XM_047436884.1:c.-70C>A, XM_047436886.1:c.-70C>T, XM_047436886.1:c.-70C>A, NP_001243210.1:p.Arg125Cys, NP_001243210.1:p.Arg125Ser

Select item 145489618515.

rs1454896185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28716920 (GRCh38)
17:27043938 (GRCh37)
Canonical SPDI:: NC_000017.11:28716919:G:A
Gene:: RAB34 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28716920G>A, NC_000017.10:g.27043938G>A, NM_031934.6:c.129C>T, NM_031934.5:c.129C>T, NM_001256281.3:c.571C>T, NM_001256281.2:c.571C>T, NM_001256281.1:c.571C>T, NM_001144942.2:c.129C>T, NM_001144942.1:c.129C>T, NM_001256277.2:c.129C>T, NM_001256277.1:c.129C>T, XM_024450973.2:c.300C>T, XM_024450973.1:c.300C>T, XM_024450975.2:c.300C>T, XM_024450975.1:c.300C>T, NM_001142624.2:c.300C>T, NM_001256276.2:c.129C>T, NM_001256276.1:c.129C>T, XM_024450976.2:c.300C>T, XM_024450976.1:c.300C>T, XM_024450984.2:c.129C>T, XM_024450984.1:c.129C>T, NM_001142625.2:c.300C>T, NR_024574.1:n.731C>T, NR_024578.1:n.731C>T, XM_047436878.1:c.129C>T, NR_024575.1:n.400C>T, XM_047436877.1:c.129C>T, XM_047436881.1:c.129C>T, NR_024579.1:n.400C>T, NM_001136045.1:c.129C>T, XM_047436882.1:c.129C>T, XM_047436884.1:c.129C>T, NM_001144943.1:c.300C>T, XM_047436886.1:c.129C>T, XM_047436879.1:c.129C>T, XM_047436876.1:c.300C>T, XM_047436883.1:c.129C>T, XM_047436885.1:c.129C>T, NP_001243210.1:p.Pro191Ser

Select item 144745139716.

rs1447451397 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:28717572 (GRCh38)
17:27044590 (GRCh37)
Canonical SPDI:: NC_000017.11:28717571:GGGGG:GGGG
Gene:: RAB34 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28717576del, NC_000017.10:g.27044594del, NM_031934.6:c.-306del, NM_031934.5:c.-306del, NM_001256281.3:c.137del, NM_001256281.2:c.137del, NM_001256281.1:c.137del, NM_001144942.2:c.-306del, NM_001144942.1:c.-306del, XM_024450990.2:c.-484del, XM_024450990.1:c.-484del, NR_024574.1:n.297del, NR_024578.1:n.297del, NP_001243210.1:p.Pro46fs

Select item 144625326717.

rs1446253267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28717679 (GRCh38)
17:27044697 (GRCh37)
Canonical SPDI:: NC_000017.11:28717678:G:A
Gene:: RAB34 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000057/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28717679G>A, NC_000017.10:g.27044697G>A, NM_031934.6:c.-413C>T, NM_031934.5:c.-413C>T, NM_001256281.3:c.30C>T, NM_001256281.2:c.30C>T, NM_001256281.1:c.30C>T, NM_001144942.2:c.-413C>T, NM_001144942.1:c.-413C>T, XM_024450990.2:c.-591C>T, XM_024450990.1:c.-591C>T, NR_024574.1:n.190C>T, NR_024578.1:n.190C>T

Select item 144538744218.

rs1445387442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28717625 (GRCh38)
17:27044643 (GRCh37)
Canonical SPDI:: NC_000017.11:28717624:G:A
Gene:: RAB34 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000039/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28717625G>A, NC_000017.10:g.27044643G>A, NM_031934.6:c.-359C>T, NM_031934.5:c.-359C>T, NM_001256281.3:c.84C>T, NM_001256281.2:c.84C>T, NM_001256281.1:c.84C>T, NM_001144942.2:c.-359C>T, NM_001144942.1:c.-359C>T, XM_024450990.2:c.-537C>T, XM_024450990.1:c.-537C>T, NR_024574.1:n.244C>T, NR_024578.1:n.244C>T

Select item 144473294719.

rs1444732947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:28717318 (GRCh38)
17:27044336 (GRCh37)
Canonical SPDI:: NC_000017.11:28717317:C:G
Gene:: RAB34 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28717318C>G, NC_000017.10:g.27044336C>G, NM_031934.6:c.-52G>C, NM_031934.5:c.-52G>C, NM_001256281.3:c.391G>C, NM_001256281.2:c.391G>C, NM_001256281.1:c.391G>C, NM_001144942.2:c.-52G>C, NM_001144942.1:c.-52G>C, XM_024450990.2:c.-230G>C, XM_024450990.1:c.-230G>C, NM_001256277.2:c.-52G>C, NM_001256277.1:c.-52G>C, NM_001256276.2:c.-52G>C, NM_001256276.1:c.-52G>C, NR_024574.1:n.551G>C, NR_024578.1:n.551G>C, XM_047436878.1:c.-52G>C, NR_024575.1:n.220G>C, XM_047436877.1:c.-52G>C, XM_047436881.1:c.-52G>C, NR_024579.1:n.220G>C, NM_001136045.1:c.-52G>C, XM_047436882.1:c.-52G>C, XM_047436884.1:c.-52G>C, XM_047436886.1:c.-52G>C, NP_001243210.1:p.Ala131Pro

Select item 144465727620.

rs1444657276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28717389 (GRCh38)
17:27044407 (GRCh37)
Canonical SPDI:: NC_000017.11:28717388:C:T
Gene:: RAB34 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,5_prime_UTR_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28717389C>T, NC_000017.10:g.27044407C>T, NM_031934.6:c.-123G>A, NM_031934.5:c.-123G>A, NM_001256281.3:c.320G>A, NM_001256281.2:c.320G>A, NM_001256281.1:c.320G>A, NM_001144942.2:c.-123G>A, NM_001144942.1:c.-123G>A, XM_024450990.2:c.-301G>A, XM_024450990.1:c.-301G>A, NM_001256277.2:c.-123G>A, NM_001256277.1:c.-123G>A, NM_001256276.2:c.-123G>A, NM_001256276.1:c.-123G>A, NR_024574.1:n.480G>A, NR_024578.1:n.480G>A, XM_047436878.1:c.-123G>A, NR_024575.1:n.149G>A, XM_047436877.1:c.-123G>A, XM_047436881.1:c.-123G>A, NR_024579.1:n.149G>A, NM_001136045.1:c.-123G>A, XM_047436882.1:c.-123G>A, XM_047436884.1:c.-123G>A, XM_047436886.1:c.-123G>A, NP_001243210.1:p.Trp107Ter

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