Linked Data
ClinVar Variation Id:
218245
dbSNP Id:
rs201785518
ExAC:
12:133306404 G / A
gnomAD v2:
12-133306404-G-A
gnomAD v3:
12-132729818-G-A
gnomAD v4:
12-132729818-G-A
PubMed:
PMID:25259927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132729818G>A , CM000674.2:g.132729818G>A | GRCh38 |
| NC_000012.11:g.133306404G>A , CM000674.1:g.133306404G>A | GRCh37 |
| NC_000012.10:g.131816477G>A | NCBI36 |
| NG_034022.1:g.37071C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357997.10:c.2344C>T MANE Select | ENSP00000350686.5:p.Gln782Ter | |
| ENST00000357997.9:c.2344C>T | ENSP00000350686.5:p.Gln782Ter | |
| ENST00000505031.6:n.2766C>T | ||
| ENST00000538766.1:c.409C>T | ENSP00000445760.1:p.Gln137Ter | |
| ENST00000539605.5:n.8843C>T | ||
| ENST00000542282.5:c.409C>T | ENSP00000437807.1:p.Gln137Ter | |
| ENST00000542374.5:n.226-1655C>T | ||
| ENST00000542657.5:c.409C>T | ENSP00000438551.1:p.Gln137Ter | |
| NM_015114.2:c.2344C>T | NP_055929.1:p.Gln782Ter | |
| XM_005266159.2:c.2158C>T | XP_005266216.1:p.Gln720Ter | |
| XM_005266160.1:c.2158C>T | XP_005266217.1:p.Gln720Ter | |
| XM_006719735.1:c.1892-1655C>T | XP_006719798.1:n.1892-1655C>T | |
| XM_011534789.1:c.1033C>T | XP_011533091.1:p.Gln345Ter | |
| XM_005266159.3:c.2158C>T | XP_005266216.1:p.Gln720Ter | |
| XM_005266160.2:c.2158C>T | XP_005266217.1:p.Gln720Ter | |
| XM_024448899.1:c.1033C>T | XP_024304667.1:p.Gln345Ter | |
| XR_001748638.1:n.2266C>T | ||
| NM_015114.3:c.2344C>T MANE Select | NP_055929.1:p.Gln782Ter |