Linked Data
ClinVar Variation Id:
48764
dbSNP Id:
rs118203516
ExAC:
9:135782675 G / A
gnomAD v2:
9-135782675-G-A
gnomAD v3:
9-132907288-G-A
gnomAD v4:
9-132907288-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132907288G>A , CM000671.2:g.132907288G>A | GRCh38 |
| NC_000009.11:g.135782675G>A , CM000671.1:g.135782675G>A | GRCh37 |
| NC_000009.10:g.134772496G>A | NCBI36 |
| NG_012386.1:g.42346C>T , LRG_486:g.42346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.1330+13C>T | ENSP00000496126.2:n.1330+13C>T | |
| ENST00000490179.4:c.1333+13C>T | ENSP00000495533.2:n.1333+13C>T | |
| ENST00000642261.2:c.1333+13C>T | ENSP00000494743.2:n.1333+13C>T | |
| ENST00000643275.2:c.1333+13C>T | ENSP00000495598.2:n.1333+13C>T | |
| ENST00000643362.2:c.946+13C>T | ENSP00000496398.2:n.946+13C>T | |
| ENST00000643625.2:c.1333+13C>T | ENSP00000495546.2:n.1333+13C>T | |
| ENST00000643691.2:c.970+13C>T | ENSP00000494916.2:n.970+13C>T | |
| ENST00000644184.2:c.1333+13C>T | ENSP00000495428.2:n.1333+13C>T | |
| ENST00000645129.2:c.1177+13C>T | ENSP00000493639.2:n.1177+13C>T | |
| ENST00000646440.2:c.1333+13C>T | ENSP00000495830.2:n.1333+13C>T | |
| ENST00000298552.9:c.1333+13C>T MANE Select | ENSP00000298552.3:n.1333+13C>T | |
| ENST00000642344.1:c.*1074+13C>T | ENSP00000494847.1:n.*1074+13C>T | |
| ENST00000642617.1:c.1330+13C>T | ENSP00000493773.1:n.1330+13C>T | |
| ENST00000642627.1:c.1330+13C>T | ENSP00000496772.1:n.1330+13C>T | |
| ENST00000642811.1:c.*1103+13C>T | ENSP00000495554.1:n.*1103+13C>T | |
| ENST00000643072.1:c.1180+13C>T | ENSP00000496691.1:n.1180+13C>T | |
| ENST00000643362.1:c.946+13C>T | ENSP00000496398.1:n.946+13C>T | |
| ENST00000643583.1:c.1333+13C>T | ENSP00000494685.1:n.1333+13C>T | |
| ENST00000643875.1:c.1333+13C>T | ENSP00000495158.1:n.1333+13C>T | |
| ENST00000644097.1:c.1330+13C>T | ENSP00000494682.1:n.1330+13C>T | |
| ENST00000644184.1:c.70+13C>T | ENSP00000495428.1:n.70+13C>T | |
| ENST00000644255.1:c.*1100+13C>T | ENSP00000493608.1:n.*1100+13C>T | |
| ENST00000644319.1:n.1708+13C>T | ||
| ENST00000645901.1:n.2184+13C>T | ||
| ENST00000646391.1:c.*1103+13C>T | ENSP00000494104.1:n.*1103+13C>T | |
| ENST00000646625.1:c.1333+13C>T | ENSP00000496263.1:n.1333+13C>T | |
| ENST00000647279.1:c.*572+13C>T | ENSP00000494502.1:n.*572+13C>T | |
| ENST00000647506.1:n.2209+13C>T | ||
| ENST00000647534.1:n.397+13C>T | ||
| ENST00000298552.7:c.1333+13C>T | ENSP00000298552.3:n.1333+13C>T | |
| ENST00000440111.6:c.1333+13C>T | ENSP00000394524.2:n.1333+13C>T | |
| ENST00000545250.5:c.1180+13C>T | ENSP00000444017.1:n.1180+13C>T | |
| NM_000368.4:c.1333+13C>T , LRG_486t1:c.1333+13C>T | NP_000359.1:n.1333+13C>T | |
| NM_001162426.1:c.1330+13C>T | NP_001155898.1:n.1330+13C>T | |
| NM_001162427.1:c.1180+13C>T | NP_001155899.1:n.1180+13C>T | |
| XM_005272211.1:c.1333+13C>T | XP_005272268.1:n.1333+13C>T | |
| XM_006717271.1:c.1333+13C>T | XP_006717334.1:n.1333+13C>T | |
| XM_006717272.2:c.1333+13C>T | XP_006717335.1:n.1333+13C>T | |
| XM_011518979.1:c.1333+13C>T | XP_011517281.1:n.1333+13C>T | |
| NM_001362177.1:c.970+13C>T | NP_001349106.1:n.970+13C>T | |
| XM_011518979.2:c.1333+13C>T | XP_011517281.1:n.1333+13C>T | |
| XM_017015096.1:c.1333+13C>T | XP_016870585.1:n.1333+13C>T | |
| XM_017015097.1:c.1333+13C>T | XP_016870586.1:n.1333+13C>T | |
| XM_017015098.1:c.1330+13C>T | XP_016870587.1:n.1330+13C>T | |
| XM_017015100.1:c.970+13C>T | XP_016870589.1:n.970+13C>T | |
| XM_017015101.1:c.967+13C>T | XP_016870590.1:n.967+13C>T | |
| NM_000368.5:c.1333+13C>T MANE Select | NP_000359.1:n.1333+13C>T | |
| NM_001162426.2:c.1330+13C>T | NP_001155898.1:n.1330+13C>T | |
| NM_001162427.2:c.1180+13C>T | NP_001155899.1:n.1180+13C>T | |
| NM_001362177.2:c.970+13C>T | NP_001349106.1:n.970+13C>T |