SNP Links for Protein (Select 984880785) - SNP

Links from Protein

Items: 1 to 20 of 103

<< First< Prev

Page of 6

Next >Last >>

Select item 14861623171.

rs1486162317 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:108622593 (GRCh38)
4:109543749 (GRCh37)
Canonical SPDI:: NC_000004.12:108622592:A:T
Gene:: RPL34 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.108622593A>T, NC_000004.11:g.109543749A>T, NM_000995.5:c.244A>T, NM_000995.4:c.244A>T, NM_000995.3:c.244A>T, NM_033625.4:c.244A>T, NM_033625.3:c.244A>T, NM_033625.2:c.244A>T, NM_001319232.2:c.244A>T, NM_001319232.1:c.244A>T, NM_001319235.2:c.244A>T, NM_001319235.1:c.244A>T, NM_001319236.2:c.244A>T, NM_001319236.1:c.244A>T, NM_001319234.1:c.244A>T, NP_000986.2:p.Met82Leu, NP_296374.1:p.Met82Leu, NP_001306161.1:p.Met82Leu, NP_001306164.1:p.Met82Leu, NP_001306165.1:p.Met82Leu, NP_001306163.1:p.Met82Leu

Select item 14809776092.

rs1480977609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:108625193 (GRCh38)
4:109546349 (GRCh37)
Canonical SPDI:: NC_000004.12:108625192:A:G
Gene:: RPL34 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.108625193A>G, NC_000004.11:g.109546349A>G, NM_000995.5:c.335A>G, NM_000995.4:c.335A>G, NM_000995.3:c.335A>G, NM_033625.4:c.335A>G, NM_033625.3:c.335A>G, NM_033625.2:c.335A>G, NM_001319232.2:c.335A>G, NM_001319232.1:c.335A>G, NM_001319235.2:c.335A>G, NM_001319235.1:c.335A>G, NM_001319236.2:c.335A>G, NM_001319236.1:c.335A>G, NM_001319234.1:c.335A>G, NP_000986.2:p.Gln112Arg, NP_296374.1:p.Gln112Arg, NP_001306161.1:p.Gln112Arg, NP_001306164.1:p.Gln112Arg, NP_001306165.1:p.Gln112Arg, NP_001306163.1:p.Gln112Arg

Select item 14651810183.

rs1465181018 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:108622165 (GRCh38)
4:109543321 (GRCh37)
Canonical SPDI:: NC_000004.12:108622164:A:G,NC_000004.12:108622164:A:T
Gene:: RPL34 (Varview), RPL34-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.108622165A>G, NC_000004.12:g.108622165A>T, NC_000004.11:g.109543321A>G, NC_000004.11:g.109543321A>T, NM_000995.5:c.126A>G, NM_000995.5:c.126A>T, NM_000995.4:c.126A>G, NM_000995.4:c.126A>T, NM_000995.3:c.126A>G, NM_000995.3:c.126A>T, NM_033625.4:c.126A>G, NM_033625.4:c.126A>T, NM_033625.3:c.126A>G, NM_033625.3:c.126A>T, NM_033625.2:c.126A>G, NM_033625.2:c.126A>T, NM_001319232.2:c.126A>G, NM_001319232.2:c.126A>T, NM_001319232.1:c.126A>G, NM_001319232.1:c.126A>T, NM_001319235.2:c.126A>G, NM_001319235.2:c.126A>T, NM_001319235.1:c.126A>G, NM_001319235.1:c.126A>T, NM_001319236.2:c.126A>G, NM_001319236.2:c.126A>T, NM_001319236.1:c.126A>G, NM_001319236.1:c.126A>T, NM_001319234.1:c.126A>G, NM_001319234.1:c.126A>T

Select item 14414900324.

rs1441490032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:108622166 (GRCh38)
4:109543322 (GRCh37)
Canonical SPDI:: NC_000004.12:108622165:A:C,NC_000004.12:108622165:A:G
Gene:: RPL34 (Varview), RPL34-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.108622166A>C, NC_000004.12:g.108622166A>G, NC_000004.11:g.109543322A>C, NC_000004.11:g.109543322A>G, NM_000995.5:c.127A>C, NM_000995.5:c.127A>G, NM_000995.4:c.127A>C, NM_000995.4:c.127A>G, NM_000995.3:c.127A>C, NM_000995.3:c.127A>G, NM_033625.4:c.127A>C, NM_033625.4:c.127A>G, NM_033625.3:c.127A>C, NM_033625.3:c.127A>G, NM_033625.2:c.127A>C, NM_033625.2:c.127A>G, NM_001319232.2:c.127A>C, NM_001319232.2:c.127A>G, NM_001319232.1:c.127A>C, NM_001319232.1:c.127A>G, NM_001319235.2:c.127A>C, NM_001319235.2:c.127A>G, NM_001319235.1:c.127A>C, NM_001319235.1:c.127A>G, NM_001319236.2:c.127A>C, NM_001319236.2:c.127A>G, NM_001319236.1:c.127A>C, NM_001319236.1:c.127A>G, NM_001319234.1:c.127A>C, NM_001319234.1:c.127A>G, NP_000986.2:p.Lys43Gln, NP_000986.2:p.Lys43Glu, NP_296374.1:p.Lys43Gln, NP_296374.1:p.Lys43Glu, NP_001306161.1:p.Lys43Gln, NP_001306161.1:p.Lys43Glu, NP_001306164.1:p.Lys43Gln, NP_001306164.1:p.Lys43Glu, NP_001306165.1:p.Lys43Gln, NP_001306165.1:p.Lys43Glu, NP_001306163.1:p.Lys43Gln, NP_001306163.1:p.Lys43Glu

Select item 14355995525.

rs1435599552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:108622154 (GRCh38)
4:109543310 (GRCh37)
Canonical SPDI:: NC_000004.12:108622153:G:A
Gene:: RPL34 (Varview), RPL34-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.108622154G>A, NC_000004.11:g.109543310G>A, NM_000995.5:c.115G>A, NM_000995.4:c.115G>A, NM_000995.3:c.115G>A, NM_033625.4:c.115G>A, NM_033625.3:c.115G>A, NM_033625.2:c.115G>A, NM_001319232.2:c.115G>A, NM_001319232.1:c.115G>A, NM_001319235.2:c.115G>A, NM_001319235.1:c.115G>A, NM_001319236.2:c.115G>A, NM_001319236.1:c.115G>A, NM_001319234.1:c.115G>A, NP_000986.2:p.Gly39Arg, NP_296374.1:p.Gly39Arg, NP_001306161.1:p.Gly39Arg, NP_001306164.1:p.Gly39Arg, NP_001306165.1:p.Gly39Arg, NP_001306163.1:p.Gly39Arg

Select item 14179582066.

rs1417958206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:108622530 (GRCh38)
4:109543686 (GRCh37)
Canonical SPDI:: NC_000004.12:108622529:C:G
Gene:: RPL34 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.108622530C>G, NC_000004.11:g.109543686C>G, NM_000995.5:c.181C>G, NM_000995.4:c.181C>G, NM_000995.3:c.181C>G, NM_033625.4:c.181C>G, NM_033625.3:c.181C>G, NM_033625.2:c.181C>G, NM_001319232.2:c.181C>G, NM_001319232.1:c.181C>G, NM_001319235.2:c.181C>G, NM_001319235.1:c.181C>G, NM_001319236.2:c.181C>G, NM_001319236.1:c.181C>G, NM_001319234.1:c.181C>G, NP_000986.2:p.Pro61Ala, NP_296374.1:p.Pro61Ala, NP_001306161.1:p.Pro61Ala, NP_001306164.1:p.Pro61Ala, NP_001306165.1:p.Pro61Ala, NP_001306163.1:p.Pro61Ala

Select item 14164943417.

rs1416494341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:108622111 (GRCh38)
4:109543267 (GRCh37)
Canonical SPDI:: NC_000004.12:108622110:A:G
Gene:: RPL34 (Varview), RPL34-DT (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.108622111A>G, NC_000004.11:g.109543267A>G, NM_000995.5:c.72A>G, NM_000995.4:c.72A>G, NM_000995.3:c.72A>G, NM_033625.4:c.72A>G, NM_033625.3:c.72A>G, NM_033625.2:c.72A>G, NM_001319232.2:c.72A>G, NM_001319232.1:c.72A>G, NM_001319235.2:c.72A>G, NM_001319235.1:c.72A>G, NM_001319236.2:c.72A>G, NM_001319236.1:c.72A>G, NM_001319234.1:c.72A>G

Select item 13953760348.

rs1395376034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:108622553 (GRCh38)
4:109543709 (GRCh37)
Canonical SPDI:: NC_000004.12:108622552:C:T
Gene:: RPL34 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.108622553C>T, NC_000004.11:g.109543709C>T, NM_000995.5:c.204C>T, NM_000995.4:c.204C>T, NM_000995.3:c.204C>T, NM_033625.4:c.204C>T, NM_033625.3:c.204C>T, NM_033625.2:c.204C>T, NM_001319232.2:c.204C>T, NM_001319232.1:c.204C>T, NM_001319235.2:c.204C>T, NM_001319235.1:c.204C>T, NM_001319236.2:c.204C>T, NM_001319236.1:c.204C>T, NM_001319234.1:c.204C>T

Select item 13917219549.

rs1391721954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:108621985 (GRCh38)
4:109543141 (GRCh37)
Canonical SPDI:: NC_000004.12:108621984:G:A
Gene:: RPL34 (Varview), RPL34-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.108621985G>A, NC_000004.11:g.109543141G>A, NM_000995.5:c.26G>A, NM_000995.4:c.26G>A, NM_000995.3:c.26G>A, NM_033625.4:c.26G>A, NM_033625.3:c.26G>A, NM_033625.2:c.26G>A, NM_001319232.2:c.26G>A, NM_001319232.1:c.26G>A, NM_001319235.2:c.26G>A, NM_001319235.1:c.26G>A, NM_001319236.2:c.26G>A, NM_001319236.1:c.26G>A, NM_001319234.1:c.26G>A, NP_000986.2:p.Arg9His, NP_296374.1:p.Arg9His, NP_001306161.1:p.Arg9His, NP_001306164.1:p.Arg9His, NP_001306165.1:p.Arg9His, NP_001306163.1:p.Arg9His

Select item 137588612010.

rs1375886120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:108622109 (GRCh38)
4:109543265 (GRCh37)
Canonical SPDI:: NC_000004.12:108622108:C:G
Gene:: RPL34 (Varview), RPL34-DT (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.108622109C>G, NC_000004.11:g.109543265C>G, NM_000995.5:c.70C>G, NM_000995.4:c.70C>G, NM_000995.3:c.70C>G, NM_033625.4:c.70C>G, NM_033625.3:c.70C>G, NM_033625.2:c.70C>G, NM_001319232.2:c.70C>G, NM_001319232.1:c.70C>G, NM_001319235.2:c.70C>G, NM_001319235.1:c.70C>G, NM_001319236.2:c.70C>G, NM_001319236.1:c.70C>G, NM_001319234.1:c.70C>G, NP_000986.2:p.Arg24Gly, NP_296374.1:p.Arg24Gly, NP_001306161.1:p.Arg24Gly, NP_001306164.1:p.Arg24Gly, NP_001306165.1:p.Arg24Gly, NP_001306163.1:p.Arg24Gly

Select item 135856851811.

rs1358568518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:108622004 (GRCh38)
4:109543160 (GRCh37)
Canonical SPDI:: NC_000004.12:108622003:A:G
Gene:: RPL34 (Varview), RPL34-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.108622004A>G, NC_000004.11:g.109543160A>G, NM_000995.5:c.45A>G, NM_000995.4:c.45A>G, NM_000995.3:c.45A>G, NM_033625.4:c.45A>G, NM_033625.3:c.45A>G, NM_033625.2:c.45A>G, NM_001319232.2:c.45A>G, NM_001319232.1:c.45A>G, NM_001319235.2:c.45A>G, NM_001319235.1:c.45A>G, NM_001319236.2:c.45A>G, NM_001319236.1:c.45A>G, NM_001319234.1:c.45A>G

Select item 135382731912.

rs1353827319 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:108622130 (GRCh38)
4:109543286 (GRCh37)
Canonical SPDI:: NC_000004.12:108622129:G:A
Gene:: RPL34 (Varview), RPL34-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.108622130G>A, NC_000004.11:g.109543286G>A, NM_000995.5:c.91G>A, NM_000995.4:c.91G>A, NM_000995.3:c.91G>A, NM_033625.4:c.91G>A, NM_033625.3:c.91G>A, NM_033625.2:c.91G>A, NM_001319232.2:c.91G>A, NM_001319232.1:c.91G>A, NM_001319235.2:c.91G>A, NM_001319235.1:c.91G>A, NM_001319236.2:c.91G>A, NM_001319236.1:c.91G>A, NM_001319234.1:c.91G>A, NP_000986.2:p.Val31Ile, NP_296374.1:p.Val31Ile, NP_001306161.1:p.Val31Ile, NP_001306164.1:p.Val31Ile, NP_001306165.1:p.Val31Ile, NP_001306163.1:p.Val31Ile

Select item 133161778813.

rs1331617788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:108622565 (GRCh38)
4:109543721 (GRCh37)
Canonical SPDI:: NC_000004.12:108622564:A:G
Gene:: RPL34 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.108622565A>G, NC_000004.11:g.109543721A>G, NM_000995.5:c.216A>G, NM_000995.4:c.216A>G, NM_000995.3:c.216A>G, NM_033625.4:c.216A>G, NM_033625.3:c.216A>G, NM_033625.2:c.216A>G, NM_001319232.2:c.216A>G, NM_001319232.1:c.216A>G, NM_001319235.2:c.216A>G, NM_001319235.1:c.216A>G, NM_001319236.2:c.216A>G, NM_001319236.1:c.216A>G, NM_001319234.1:c.216A>G

Select item 132431983614.

rs1324319836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:108622573 (GRCh38)
4:109543729 (GRCh37)
Canonical SPDI:: NC_000004.12:108622572:G:A
Gene:: RPL34 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.108622573G>A, NC_000004.11:g.109543729G>A, NM_000995.5:c.224G>A, NM_000995.4:c.224G>A, NM_000995.3:c.224G>A, NM_033625.4:c.224G>A, NM_033625.3:c.224G>A, NM_033625.2:c.224G>A, NM_001319232.2:c.224G>A, NM_001319232.1:c.224G>A, NM_001319235.2:c.224G>A, NM_001319235.1:c.224G>A, NM_001319236.2:c.224G>A, NM_001319236.1:c.224G>A, NM_001319234.1:c.224G>A, NP_000986.2:p.Ser75Asn, NP_296374.1:p.Ser75Asn, NP_001306161.1:p.Ser75Asn, NP_001306164.1:p.Ser75Asn, NP_001306165.1:p.Ser75Asn, NP_001306163.1:p.Ser75Asn

Select item 131894111015.

rs1318941110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:108621992 (GRCh38)
4:109543148 (GRCh37)
Canonical SPDI:: NC_000004.12:108621991:T:G
Gene:: RPL34 (Varview), RPL34-DT (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.108621992T>G, NC_000004.11:g.109543148T>G, NM_000995.5:c.33T>G, NM_000995.4:c.33T>G, NM_000995.3:c.33T>G, NM_033625.4:c.33T>G, NM_033625.3:c.33T>G, NM_033625.2:c.33T>G, NM_001319232.2:c.33T>G, NM_001319232.1:c.33T>G, NM_001319235.2:c.33T>G, NM_001319235.1:c.33T>G, NM_001319236.2:c.33T>G, NM_001319236.1:c.33T>G, NM_001319234.1:c.33T>G

Select item 131495366016.

rs1314953660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:108622116 (GRCh38)
4:109543272 (GRCh37)
Canonical SPDI:: NC_000004.12:108622115:C:T
Gene:: RPL34 (Varview), RPL34-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000004.12:g.108622116C>T, NC_000004.11:g.109543272C>T, NM_000995.5:c.77C>T, NM_000995.4:c.77C>T, NM_000995.3:c.77C>T, NM_033625.4:c.77C>T, NM_033625.3:c.77C>T, NM_033625.2:c.77C>T, NM_001319232.2:c.77C>T, NM_001319232.1:c.77C>T, NM_001319235.2:c.77C>T, NM_001319235.1:c.77C>T, NM_001319236.2:c.77C>T, NM_001319236.1:c.77C>T, NM_001319234.1:c.77C>T, NP_000986.2:p.Pro26Leu, NP_296374.1:p.Pro26Leu, NP_001306161.1:p.Pro26Leu, NP_001306164.1:p.Pro26Leu, NP_001306165.1:p.Pro26Leu, NP_001306163.1:p.Pro26Leu

Select item 129819503017.

rs1298195030 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:108622572 (GRCh38)
4:109543728 (GRCh37)
Canonical SPDI:: NC_000004.12:108622571:A:C
Gene:: RPL34 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.108622572A>C, NC_000004.11:g.109543728A>C, NM_000995.5:c.223A>C, NM_000995.4:c.223A>C, NM_000995.3:c.223A>C, NM_033625.4:c.223A>C, NM_033625.3:c.223A>C, NM_033625.2:c.223A>C, NM_001319232.2:c.223A>C, NM_001319232.1:c.223A>C, NM_001319235.2:c.223A>C, NM_001319235.1:c.223A>C, NM_001319236.2:c.223A>C, NM_001319236.1:c.223A>C, NM_001319234.1:c.223A>C, NP_000986.2:p.Ser75Arg, NP_296374.1:p.Ser75Arg, NP_001306161.1:p.Ser75Arg, NP_001306164.1:p.Ser75Arg, NP_001306165.1:p.Ser75Arg, NP_001306163.1:p.Ser75Arg

Select item 129396816218.

rs1293968162 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:108621986 (GRCh38)
4:109543142 (GRCh37)
Canonical SPDI:: NC_000004.12:108621985:T:C
Gene:: RPL34 (Varview), RPL34-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.108621986T>C, NC_000004.11:g.109543142T>C, NM_000995.5:c.27T>C, NM_000995.4:c.27T>C, NM_000995.3:c.27T>C, NM_033625.4:c.27T>C, NM_033625.3:c.27T>C, NM_033625.2:c.27T>C, NM_001319232.2:c.27T>C, NM_001319232.1:c.27T>C, NM_001319235.2:c.27T>C, NM_001319235.1:c.27T>C, NM_001319236.2:c.27T>C, NM_001319236.1:c.27T>C, NM_001319234.1:c.27T>C

Select item 128616277619.

rs1286162776 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:108622596 (GRCh38)
4:109543752 (GRCh37)
Canonical SPDI:: NC_000004.12:108622595:T:C
Gene:: RPL34 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.108622596T>C, NC_000004.11:g.109543752T>C, NM_000995.5:c.247T>C, NM_000995.4:c.247T>C, NM_000995.3:c.247T>C, NM_033625.4:c.247T>C, NM_033625.3:c.247T>C, NM_033625.2:c.247T>C, NM_001319232.2:c.247T>C, NM_001319232.1:c.247T>C, NM_001319235.2:c.247T>C, NM_001319235.1:c.247T>C, NM_001319236.2:c.247T>C, NM_001319236.1:c.247T>C, NM_001319234.1:c.247T>C, NP_000986.2:p.Cys83Arg, NP_296374.1:p.Cys83Arg, NP_001306161.1:p.Cys83Arg, NP_001306164.1:p.Cys83Arg, NP_001306165.1:p.Cys83Arg, NP_001306163.1:p.Cys83Arg

Select item 128572907120.

rs1285729071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:108622159 (GRCh38)
4:109543315 (GRCh37)
Canonical SPDI:: NC_000004.12:108622158:A:G
Gene:: RPL34 (Varview), RPL34-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.108622159A>G, NC_000004.11:g.109543315A>G, NM_000995.5:c.120A>G, NM_000995.4:c.120A>G, NM_000995.3:c.120A>G, NM_033625.4:c.120A>G, NM_033625.3:c.120A>G, NM_033625.2:c.120A>G, NM_001319232.2:c.120A>G, NM_001319232.1:c.120A>G, NM_001319235.2:c.120A>G, NM_001319235.1:c.120A>G, NM_001319236.2:c.120A>G, NM_001319236.1:c.120A>G, NM_001319234.1:c.120A>G

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 103

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity