Linked Data
ClinVar Variation Id:
411280
dbSNP Id:
rs768189353
gnomAD v4:
9-132904429-C-T
COSMIC:
COSM6006357
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132904429C>T , CM000671.2:g.132904429C>T | GRCh38 |
| NC_000009.11:g.135779816C>T , CM000671.1:g.135779816C>T | GRCh37 |
| NC_000009.10:g.134769637C>T | NCBI36 |
| NG_012386.1:g.45205G>A , LRG_486:g.45205G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2020G>A | ENSP00000496126.2:p.Asp674Asn | |
| ENST00000490179.4:c.2023G>A | ENSP00000495533.2:p.Asp675Asn | |
| ENST00000642261.2:c.2023G>A | ENSP00000494743.2:p.Asp675Asn | |
| ENST00000643275.2:c.1998-612G>A | ENSP00000495598.2:n.1998-612G>A | |
| ENST00000643362.2:c.1636G>A | ENSP00000496398.2:p.Asp546Asn | |
| ENST00000643625.2:c.2023G>A | ENSP00000495546.2:p.Asp675Asn | |
| ENST00000643691.2:c.1660G>A | ENSP00000494916.2:p.Asp554Asn | |
| ENST00000644184.2:c.2023G>A | ENSP00000495428.2:p.Asp675Asn | |
| ENST00000645129.2:c.1867G>A | ENSP00000493639.2:p.Asp623Asn | |
| ENST00000646440.2:c.2023G>A | ENSP00000495830.2:p.Asp675Asn | |
| ENST00000298552.9:c.2023G>A MANE Select | ENSP00000298552.3:p.Asp675Asn | |
| ENST00000642261.1:c.87G>A | ||
| ENST00000642617.1:c.2020G>A | ENSP00000493773.1:p.Asp674Asn | |
| ENST00000642627.1:c.2020G>A | ENSP00000496772.1:p.Asp674Asn | |
| ENST00000642811.1:c.*1793G>A | ENSP00000495554.1:n.*1793G>A | |
| ENST00000643072.1:c.1870G>A | ENSP00000496691.1:p.Asp624Asn | |
| ENST00000643275.1:c.516-612G>A | ENSP00000495598.1:n.516-612G>A | |
| ENST00000643583.1:c.2023G>A | ENSP00000494685.1:p.Asp675Asn | |
| ENST00000643625.1:c.67G>A | ENSP00000495546.1:p.Asp23Asn | |
| ENST00000643875.1:c.2023G>A | ENSP00000495158.1:p.Asp675Asn | |
| ENST00000644097.1:c.2020G>A | ENSP00000494682.1:p.Asp674Asn | |
| ENST00000644184.1:c.760G>A | ENSP00000495428.1:p.Asp254Asn | |
| ENST00000644255.1:c.*1790G>A | ENSP00000493608.1:n.*1790G>A | |
| ENST00000644319.1:n.2398G>A | ||
| ENST00000644882.1:n.978G>A | ||
| ENST00000645901.1:n.2874G>A | ||
| ENST00000646391.1:c.*1793G>A | ENSP00000494104.1:n.*1793G>A | |
| ENST00000646625.1:c.2023G>A | ENSP00000496263.1:p.Asp675Asn | |
| ENST00000647262.1:n.988G>A | ||
| ENST00000647279.1:c.*1262G>A | ENSP00000494502.1:n.*1262G>A | |
| ENST00000647506.1:n.2899G>A | ||
| ENST00000647534.1:n.1087G>A | ||
| ENST00000298552.7:c.2023G>A | ENSP00000298552.3:p.Asp675Asn | |
| ENST00000440111.6:c.2023G>A | ENSP00000394524.2:p.Asp675Asn | |
| ENST00000545250.5:c.1870G>A | ENSP00000444017.1:p.Asp624Asn | |
| NM_000368.4:c.2023G>A , LRG_486t1:c.2023G>A | NP_000359.1:p.Asp675Asn | |
| NM_001162426.1:c.2020G>A | NP_001155898.1:p.Asp674Asn | |
| NM_001162427.1:c.1870G>A | NP_001155899.1:p.Asp624Asn | |
| XM_005272211.1:c.2023G>A | XP_005272268.1:p.Asp675Asn | |
| XM_006717271.1:c.2023G>A | XP_006717334.1:p.Asp675Asn | |
| XM_011518979.1:c.2023G>A | XP_011517281.1:p.Asp675Asn | |
| NM_001362177.1:c.1660G>A | NP_001349106.1:p.Asp554Asn | |
| XM_011518979.2:c.2023G>A | XP_011517281.1:p.Asp675Asn | |
| XM_017015096.1:c.2023G>A | XP_016870585.1:p.Asp675Asn | |
| XM_017015097.1:c.2023G>A | XP_016870586.1:p.Asp675Asn | |
| XM_017015098.1:c.2020G>A | XP_016870587.1:p.Asp674Asn | |
| XM_017015100.1:c.1660G>A | XP_016870589.1:p.Asp554Asn | |
| XM_017015101.1:c.1657G>A | XP_016870590.1:p.Asp553Asn | |
| NM_000368.5:c.2023G>A MANE Select | NP_000359.1:p.Asp675Asn | |
| NM_001162426.2:c.2020G>A | NP_001155898.1:p.Asp674Asn | |
| NM_001162427.2:c.1870G>A | NP_001155899.1:p.Asp624Asn | |
| NM_001362177.2:c.1660G>A | NP_001349106.1:p.Asp554Asn |