SNP Links for Protein (Select 39995089) - SNP

Links from Protein

Items: 1 to 20 of 157

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Select item 14898741811.

rs1489874181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:27969479 (GRCh38)
12:28122412 (GRCh37)
Canonical SPDI:: NC_000012.12:27969478:C:A
Gene:: PTHLH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.27969479C>A, NC_000012.11:g.28122412C>A, NG_023197.1:g.7505G>T, NM_002820.3:c.16G>T, NM_002820.2:c.16G>T, NM_198964.2:c.16G>T, NM_198964.1:c.16G>T, NM_198965.2:c.16G>T, NM_198965.1:c.16G>T, NM_198966.2:c.16G>T, NM_198966.1:c.16G>T, XM_017019675.2:c.16G>T, XM_017019675.1:c.16G>T, XM_047429179.1:c.16G>T, XM_047429178.1:c.16G>T, NP_002811.1:p.Val6Phe, NP_945315.1:p.Val6Phe, NP_945316.1:p.Val6Phe, NP_945317.1:p.Val6Phe, XP_016875164.1:p.Val6Phe, XP_047285135.1:p.Val6Phe, XP_047285134.1:p.Val6Phe

Select item 14853778702.

rs1485377870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:27963387 (GRCh38)
12:28116320 (GRCh37)
Canonical SPDI:: NC_000012.12:27963386:A:G
Gene:: PTHLH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.27963387A>G, NC_000012.11:g.28116320A>G, NG_023197.1:g.13597T>C, NM_002820.3:c.485T>C, NM_002820.2:c.485T>C, NM_198964.2:c.485T>C, NM_198964.1:c.485T>C, NM_198965.2:c.485T>C, NM_198965.1:c.485T>C, NM_198966.2:c.485T>C, NM_198966.1:c.485T>C, XM_017019675.2:c.485T>C, XM_017019675.1:c.485T>C, XM_047429179.1:c.485T>C, XM_047429178.1:c.485T>C, NP_002811.1:p.Leu162Pro, NP_945315.1:p.Leu162Pro, NP_945316.1:p.Leu162Pro, NP_945317.1:p.Leu162Pro, XP_016875164.1:p.Leu162Pro, XP_047285135.1:p.Leu162Pro, XP_047285134.1:p.Leu162Pro

Select item 14837388733.

rs1483738873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:27963560 (GRCh38)
12:28116493 (GRCh37)
Canonical SPDI:: NC_000012.12:27963559:T:A
Gene:: PTHLH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.27963560T>A, NC_000012.11:g.28116493T>A, NG_023197.1:g.13424A>T, NM_002820.3:c.312A>T, NM_002820.2:c.312A>T, NM_198964.2:c.312A>T, NM_198964.1:c.312A>T, NM_198965.2:c.312A>T, NM_198965.1:c.312A>T, NM_198966.2:c.312A>T, NM_198966.1:c.312A>T, XM_017019675.2:c.312A>T, XM_017019675.1:c.312A>T, XM_047429179.1:c.312A>T, XM_047429178.1:c.312A>T

Select item 14801086074.

rs1480108607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:27969421 (GRCh38)
12:28122354 (GRCh37)
Canonical SPDI:: NC_000012.12:27969420:C:A
Gene:: PTHLH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.27969421C>A, NC_000012.11:g.28122354C>A, NG_023197.1:g.7563G>T, NM_002820.3:c.74G>T, NM_002820.2:c.74G>T, NM_198964.2:c.74G>T, NM_198964.1:c.74G>T, NM_198965.2:c.74G>T, NM_198965.1:c.74G>T, NM_198966.2:c.74G>T, NM_198966.1:c.74G>T, XM_017019675.2:c.74G>T, XM_017019675.1:c.74G>T, XM_047429179.1:c.74G>T, XM_047429178.1:c.74G>T, NP_002811.1:p.Arg25Leu, NP_945315.1:p.Arg25Leu, NP_945316.1:p.Arg25Leu, NP_945317.1:p.Arg25Leu, XP_016875164.1:p.Arg25Leu, XP_047285135.1:p.Arg25Leu, XP_047285134.1:p.Arg25Leu

Select item 14782440525.

rs1478244052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:27969405 (GRCh38)
12:28122338 (GRCh37)
Canonical SPDI:: NC_000012.12:27969404:G:C
Gene:: PTHLH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000012.12:g.27969405G>C, NC_000012.11:g.28122338G>C, NG_023197.1:g.7579C>G, NM_002820.3:c.90C>G, NM_002820.2:c.90C>G, NM_198964.2:c.90C>G, NM_198964.1:c.90C>G, NM_198965.2:c.90C>G, NM_198965.1:c.90C>G, NM_198966.2:c.90C>G, NM_198966.1:c.90C>G, XM_017019675.2:c.90C>G, XM_017019675.1:c.90C>G, XM_047429179.1:c.90C>G, XM_047429178.1:c.90C>G

Select item 14763909496.

rs1476390949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:27963349 (GRCh38)
12:28116282 (GRCh37)
Canonical SPDI:: NC_000012.12:27963348:G:A
Gene:: PTHLH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.27963349G>A, NC_000012.11:g.28116282G>A, NG_023197.1:g.13635C>T, NM_002820.3:c.523C>T, NM_002820.2:c.523C>T, NM_198964.2:c.523C>T, NM_198964.1:c.523C>T, NM_198965.2:c.523C>T, NM_198965.1:c.523C>T, NM_198966.2:c.523C>T, NM_198966.1:c.523C>T, XM_017019675.2:c.523C>T, XM_017019675.1:c.523C>T, XM_047429179.1:c.523C>T, XM_047429178.1:c.523C>T, NP_002811.1:p.Arg175Trp, NP_945315.1:p.Arg175Trp, NP_945316.1:p.Arg175Trp, NP_945317.1:p.Arg175Trp, XP_016875164.1:p.Arg175Trp, XP_047285135.1:p.Arg175Trp, XP_047285134.1:p.Arg175Trp

Select item 14738980067.

rs1473898006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:27963505 (GRCh38)
12:28116438 (GRCh37)
Canonical SPDI:: NC_000012.12:27963504:C:T
Gene:: PTHLH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.27963505C>T, NC_000012.11:g.28116438C>T, NG_023197.1:g.13479G>A, NM_002820.3:c.367G>A, NM_002820.2:c.367G>A, NM_198964.2:c.367G>A, NM_198964.1:c.367G>A, NM_198965.2:c.367G>A, NM_198965.1:c.367G>A, NM_198966.2:c.367G>A, NM_198966.1:c.367G>A, XM_017019675.2:c.367G>A, XM_017019675.1:c.367G>A, XM_047429179.1:c.367G>A, XM_047429178.1:c.367G>A, NP_002811.1:p.Gly123Arg, NP_945315.1:p.Gly123Arg, NP_945316.1:p.Gly123Arg, NP_945317.1:p.Gly123Arg, XP_016875164.1:p.Gly123Arg, XP_047285135.1:p.Gly123Arg, XP_047285134.1:p.Gly123Arg

Select item 14702821118.

rs1470282111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:27963676 (GRCh38)
12:28116609 (GRCh37)
Canonical SPDI:: NC_000012.12:27963675:C:T
Gene:: PTHLH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.27963676C>T, NC_000012.11:g.28116609C>T, NG_023197.1:g.13308G>A, NM_002820.3:c.196G>A, NM_002820.2:c.196G>A, NM_198964.2:c.196G>A, NM_198964.1:c.196G>A, NM_198965.2:c.196G>A, NM_198965.1:c.196G>A, NM_198966.2:c.196G>A, NM_198966.1:c.196G>A, XM_017019675.2:c.196G>A, XM_017019675.1:c.196G>A, XM_047429179.1:c.196G>A, XM_047429178.1:c.196G>A, NP_002811.1:p.Glu66Lys, NP_945315.1:p.Glu66Lys, NP_945316.1:p.Glu66Lys, NP_945317.1:p.Glu66Lys, XP_016875164.1:p.Glu66Lys, XP_047285135.1:p.Glu66Lys, XP_047285134.1:p.Glu66Lys

Select item 14631752589.

rs1463175258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:27963369 (GRCh38)
12:28116302 (GRCh37)
Canonical SPDI:: NC_000012.12:27963368:G:A
Gene:: PTHLH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.27963369G>A, NC_000012.11:g.28116302G>A, NG_023197.1:g.13615C>T, NM_002820.3:c.503C>T, NM_002820.2:c.503C>T, NM_198964.2:c.503C>T, NM_198964.1:c.503C>T, NM_198965.2:c.503C>T, NM_198965.1:c.503C>T, NM_198966.2:c.503C>T, NM_198966.1:c.503C>T, XM_017019675.2:c.503C>T, XM_017019675.1:c.503C>T, XM_047429179.1:c.503C>T, XM_047429178.1:c.503C>T, NP_002811.1:p.Thr168Met, NP_945315.1:p.Thr168Met, NP_945316.1:p.Thr168Met, NP_945317.1:p.Thr168Met, XP_016875164.1:p.Thr168Met, XP_047285135.1:p.Thr168Met, XP_047285134.1:p.Thr168Met

Select item 143991219410.

rs1439912194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:27963606 (GRCh38)
12:28116539 (GRCh37)
Canonical SPDI:: NC_000012.12:27963605:T:A
Gene:: PTHLH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.27963606T>A, NC_000012.11:g.28116539T>A, NG_023197.1:g.13378A>T, NM_002820.3:c.266A>T, NM_002820.2:c.266A>T, NM_198964.2:c.266A>T, NM_198964.1:c.266A>T, NM_198965.2:c.266A>T, NM_198965.1:c.266A>T, NM_198966.2:c.266A>T, NM_198966.1:c.266A>T, XM_017019675.2:c.266A>T, XM_017019675.1:c.266A>T, XM_047429179.1:c.266A>T, XM_047429178.1:c.266A>T, NP_002811.1:p.Lys89Met, NP_945315.1:p.Lys89Met, NP_945316.1:p.Lys89Met, NP_945317.1:p.Lys89Met, XP_016875164.1:p.Lys89Met, XP_047285135.1:p.Lys89Met, XP_047285134.1:p.Lys89Met

Select item 143795069511.

rs1437950695 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:27963579 (GRCh38)
12:28116512 (GRCh37)
Canonical SPDI:: NC_000012.12:27963578:T:G
Gene:: PTHLH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.27963579T>G, NC_000012.11:g.28116512T>G, NG_023197.1:g.13405A>C, NM_002820.3:c.293A>C, NM_002820.2:c.293A>C, NM_198964.2:c.293A>C, NM_198964.1:c.293A>C, NM_198965.2:c.293A>C, NM_198965.1:c.293A>C, NM_198966.2:c.293A>C, NM_198966.1:c.293A>C, XM_017019675.2:c.293A>C, XM_017019675.1:c.293A>C, XM_047429179.1:c.293A>C, XM_047429178.1:c.293A>C, NP_002811.1:p.Asp98Ala, NP_945315.1:p.Asp98Ala, NP_945316.1:p.Asp98Ala, NP_945317.1:p.Asp98Ala, XP_016875164.1:p.Asp98Ala, XP_047285135.1:p.Asp98Ala, XP_047285134.1:p.Asp98Ala

Select item 143321055412.

rs1433210554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:27963401 (GRCh38)
12:28116334 (GRCh37)
Canonical SPDI:: NC_000012.12:27963400:T:C
Gene:: PTHLH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.27963401T>C, NC_000012.11:g.28116334T>C, NG_023197.1:g.13583A>G, NM_002820.3:c.471A>G, NM_002820.2:c.471A>G, NM_198964.2:c.471A>G, NM_198964.1:c.471A>G, NM_198965.2:c.471A>G, NM_198965.1:c.471A>G, NM_198966.2:c.471A>G, NM_198966.1:c.471A>G, XM_017019675.2:c.471A>G, XM_017019675.1:c.471A>G, XM_047429179.1:c.471A>G, XM_047429178.1:c.471A>G

Select item 142930459513.

rs1429304595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:27963592 (GRCh38)
12:28116525 (GRCh37)
Canonical SPDI:: NC_000012.12:27963591:G:T
Gene:: PTHLH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.27963592G>T, NC_000012.11:g.28116525G>T, NG_023197.1:g.13392C>A, NM_002820.3:c.280C>A, NM_002820.2:c.280C>A, NM_198964.2:c.280C>A, NM_198964.1:c.280C>A, NM_198965.2:c.280C>A, NM_198965.1:c.280C>A, NM_198966.2:c.280C>A, NM_198966.1:c.280C>A, XM_017019675.2:c.280C>A, XM_017019675.1:c.280C>A, XM_047429179.1:c.280C>A, XM_047429178.1:c.280C>A

Select item 142772474814.

rs1427724748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:27963411 (GRCh38)
12:28116344 (GRCh37)
Canonical SPDI:: NC_000012.12:27963410:C:A,NC_000012.12:27963410:C:T
Gene:: PTHLH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.27963411C>A, NC_000012.12:g.27963411C>T, NC_000012.11:g.28116344C>A, NC_000012.11:g.28116344C>T, NG_023197.1:g.13573G>T, NG_023197.1:g.13573G>A, NM_002820.3:c.461G>T, NM_002820.3:c.461G>A, NM_002820.2:c.461G>T, NM_002820.2:c.461G>A, NM_198964.2:c.461G>T, NM_198964.2:c.461G>A, NM_198964.1:c.461G>T, NM_198964.1:c.461G>A, NM_198965.2:c.461G>T, NM_198965.2:c.461G>A, NM_198965.1:c.461G>T, NM_198965.1:c.461G>A, NM_198966.2:c.461G>T, NM_198966.2:c.461G>A, NM_198966.1:c.461G>T, NM_198966.1:c.461G>A, XM_017019675.2:c.461G>T, XM_017019675.2:c.461G>A, XM_017019675.1:c.461G>T, XM_017019675.1:c.461G>A, XM_047429179.1:c.461G>T, XM_047429179.1:c.461G>A, XM_047429178.1:c.461G>T, XM_047429178.1:c.461G>A, NP_002811.1:p.Gly154Val, NP_002811.1:p.Gly154Glu, NP_945315.1:p.Gly154Val, NP_945315.1:p.Gly154Glu, NP_945316.1:p.Gly154Val, NP_945316.1:p.Gly154Glu, NP_945317.1:p.Gly154Val, NP_945317.1:p.Gly154Glu, XP_016875164.1:p.Gly154Val, XP_016875164.1:p.Gly154Glu, XP_047285135.1:p.Gly154Val, XP_047285135.1:p.Gly154Glu, XP_047285134.1:p.Gly154Val, XP_047285134.1:p.Gly154Glu

Select item 142671841415.

rs1426718414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:27963398 (GRCh38)
12:28116331 (GRCh37)
Canonical SPDI:: NC_000012.12:27963397:T:G
Gene:: PTHLH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.27963398T>G, NC_000012.11:g.28116331T>G, NG_023197.1:g.13586A>C, NM_002820.3:c.474A>C, NM_002820.2:c.474A>C, NM_198964.2:c.474A>C, NM_198964.1:c.474A>C, NM_198965.2:c.474A>C, NM_198965.1:c.474A>C, NM_198966.2:c.474A>C, NM_198966.1:c.474A>C, XM_017019675.2:c.474A>C, XM_017019675.1:c.474A>C, XM_047429179.1:c.474A>C, XM_047429178.1:c.474A>C, NP_002811.1:p.Glu158Asp, NP_945315.1:p.Glu158Asp, NP_945316.1:p.Glu158Asp, NP_945317.1:p.Glu158Asp, XP_016875164.1:p.Glu158Asp, XP_047285135.1:p.Glu158Asp, XP_047285134.1:p.Glu158Asp

Select item 141858728116.

rs1418587281 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:27963370 (GRCh38)
12:28116303 (GRCh37)
Canonical SPDI:: NC_000012.12:27963369:T:A,NC_000012.12:27963369:T:C
Gene:: PTHLH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.27963370T>A, NC_000012.12:g.27963370T>C, NC_000012.11:g.28116303T>A, NC_000012.11:g.28116303T>C, NG_023197.1:g.13614A>T, NG_023197.1:g.13614A>G, NM_002820.3:c.502A>T, NM_002820.3:c.502A>G, NM_002820.2:c.502A>T, NM_002820.2:c.502A>G, NM_198964.2:c.502A>T, NM_198964.2:c.502A>G, NM_198964.1:c.502A>T, NM_198964.1:c.502A>G, NM_198965.2:c.502A>T, NM_198965.2:c.502A>G, NM_198965.1:c.502A>T, NM_198965.1:c.502A>G, NM_198966.2:c.502A>T, NM_198966.2:c.502A>G, NM_198966.1:c.502A>T, NM_198966.1:c.502A>G, XM_017019675.2:c.502A>T, XM_017019675.2:c.502A>G, XM_017019675.1:c.502A>T, XM_017019675.1:c.502A>G, XM_047429179.1:c.502A>T, XM_047429179.1:c.502A>G, XM_047429178.1:c.502A>T, XM_047429178.1:c.502A>G, NP_002811.1:p.Thr168Ser, NP_002811.1:p.Thr168Ala, NP_945315.1:p.Thr168Ser, NP_945315.1:p.Thr168Ala, NP_945316.1:p.Thr168Ser, NP_945316.1:p.Thr168Ala, NP_945317.1:p.Thr168Ser, NP_945317.1:p.Thr168Ala, XP_016875164.1:p.Thr168Ser, XP_016875164.1:p.Thr168Ala, XP_047285135.1:p.Thr168Ser, XP_047285135.1:p.Thr168Ala, XP_047285134.1:p.Thr168Ser, XP_047285134.1:p.Thr168Ala

Select item 141522492317.

rs1415224923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:27963393 (GRCh38)
12:28116326 (GRCh37)
Canonical SPDI:: NC_000012.12:27963392:T:G
Gene:: PTHLH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.27963393T>G, NC_000012.11:g.28116326T>G, NG_023197.1:g.13591A>C, NM_002820.3:c.479A>C, NM_002820.2:c.479A>C, NM_198964.2:c.479A>C, NM_198964.1:c.479A>C, NM_198965.2:c.479A>C, NM_198965.1:c.479A>C, NM_198966.2:c.479A>C, NM_198966.1:c.479A>C, XM_017019675.2:c.479A>C, XM_017019675.1:c.479A>C, XM_047429179.1:c.479A>C, XM_047429178.1:c.479A>C, NP_002811.1:p.Asp160Ala, NP_945315.1:p.Asp160Ala, NP_945316.1:p.Asp160Ala, NP_945317.1:p.Asp160Ala, XP_016875164.1:p.Asp160Ala, XP_047285135.1:p.Asp160Ala, XP_047285134.1:p.Asp160Ala

Select item 141272760818.

rs1412727608 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:27969483 (GRCh38)
12:28122416 (GRCh37)
Canonical SPDI:: NC_000012.12:27969482:T:G
Gene:: PTHLH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.27969483T>G, NC_000012.11:g.28122416T>G, NG_023197.1:g.7501A>C, NM_002820.3:c.12A>C, NM_002820.2:c.12A>C, NM_198964.2:c.12A>C, NM_198964.1:c.12A>C, NM_198965.2:c.12A>C, NM_198965.1:c.12A>C, NM_198966.2:c.12A>C, NM_198966.1:c.12A>C, XM_017019675.2:c.12A>C, XM_017019675.1:c.12A>C, XM_047429179.1:c.12A>C, XM_047429178.1:c.12A>C, NP_002811.1:p.Arg4Ser, NP_945315.1:p.Arg4Ser, NP_945316.1:p.Arg4Ser, NP_945317.1:p.Arg4Ser, XP_016875164.1:p.Arg4Ser, XP_047285135.1:p.Arg4Ser, XP_047285134.1:p.Arg4Ser

Select item 141066326419.

rs1410663264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:27963536 (GRCh38)
12:28116469 (GRCh37)
Canonical SPDI:: NC_000012.12:27963535:C:A
Gene:: PTHLH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.27963536C>A, NC_000012.11:g.28116469C>A, NG_023197.1:g.13448G>T, NM_002820.3:c.336G>T, NM_002820.2:c.336G>T, NM_198964.2:c.336G>T, NM_198964.1:c.336G>T, NM_198965.2:c.336G>T, NM_198965.1:c.336G>T, NM_198966.2:c.336G>T, NM_198966.1:c.336G>T, XM_017019675.2:c.336G>T, XM_017019675.1:c.336G>T, XM_047429179.1:c.336G>T, XM_047429178.1:c.336G>T, NP_002811.1:p.Glu112Asp, NP_945315.1:p.Glu112Asp, NP_945316.1:p.Glu112Asp, NP_945317.1:p.Glu112Asp, XP_016875164.1:p.Glu112Asp, XP_047285135.1:p.Glu112Asp, XP_047285134.1:p.Glu112Asp

Select item 140818092420.

rs1408180924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:27963682 (GRCh38)
12:28116615 (GRCh37)
Canonical SPDI:: NC_000012.12:27963681:T:A
Gene:: PTHLH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.27963682T>A, NC_000012.11:g.28116615T>A, NG_023197.1:g.13302A>T, NM_002820.3:c.190A>T, NM_002820.2:c.190A>T, NM_198964.2:c.190A>T, NM_198964.1:c.190A>T, NM_198965.2:c.190A>T, NM_198965.1:c.190A>T, NM_198966.2:c.190A>T, NM_198966.1:c.190A>T, XM_017019675.2:c.190A>T, XM_017019675.1:c.190A>T, XM_047429179.1:c.190A>T, XM_047429178.1:c.190A>T, NP_002811.1:p.Ile64Phe, NP_945315.1:p.Ile64Phe, NP_945316.1:p.Ile64Phe, NP_945317.1:p.Ile64Phe, XP_016875164.1:p.Ile64Phe, XP_047285135.1:p.Ile64Phe, XP_047285134.1:p.Ile64Phe

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