Linked Data
ClinVar Variation Id:
2099802
ClinVar RCV Id:
RCV003021898
dbSNP Id:
rs375950722
ExAC:
1:237947659 C / T
gnomAD v2:
1-237947659-C-T
gnomAD v3:
1-237784359-C-T
gnomAD v4:
1-237784359-C-T
COSMIC:
COSM125981
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784359C>T , CM000663.2:g.237784359C>T | GRCh38 |
| NC_000001.10:g.237947659C>T , CM000663.1:g.237947659C>T | GRCh37 |
| NC_000001.9:g.236014282C>T | NCBI36 |
| NG_008799.2:g.746958C>T | |
| NG_008799.3:g.747176C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3739C>T | ENSP00000499659.2:n.*3739C>T | |
| ENST00000659194.3:c.12635C>T | ENSP00000499653.3:p.Ala4212Val | |
| ENST00000660292.2:c.12668C>T | ENSP00000499787.2:p.Ala4223Val | |
| ENST00000659194.2:c.4824C>T | ||
| ENST00000366574.7:c.12647C>T MANE Select | ENSP00000355533.2:p.Ala4216Val | |
| ENST00000659194.1:c.4824C>T | ||
| ENST00000660292.1:c.2700C>T | ||
| ENST00000360064.7:c.12599C>T | ENSP00000353174.7:p.Ala4200Val | |
| ENST00000366574.6:c.12647C>T | ENSP00000355533.2:p.Ala4216Val | |
| ENST00000609119.1:n.3842C>T | ||
| NM_001035.2:c.12647C>T | NP_001026.2:p.Ala4216Val | |
| XM_006711802.2:c.12701C>T | XP_006711865.1:p.Ala4234Val | |
| XM_006711803.2:c.12698C>T | XP_006711866.1:p.Ala4233Val | |
| XM_006711804.2:c.12677C>T | XP_006711867.1:p.Ala4226Val | |
| XM_006711805.2:c.12671C>T | XP_006711868.1:p.Ala4224Val | |
| XM_006711806.2:c.12665C>T | XP_006711869.1:p.Ala4222Val | |
| XM_006711807.2:c.12641C>T | XP_006711870.1:p.Ala4214Val | |
| XM_006711808.2:c.12464C>T | XP_006711871.1:p.Ala4155Val | |
| XM_006711810.2:c.12608C>T | XP_006711873.1:p.Ala4203Val | |
| XM_006711802.3:c.12701C>T | XP_006711865.1:p.Ala4234Val | |
| XM_006711803.3:c.12698C>T | XP_006711866.1:p.Ala4233Val | |
| XM_006711804.3:c.12677C>T | XP_006711867.1:p.Ala4226Val | |
| XM_006711805.3:c.12671C>T | XP_006711868.1:p.Ala4224Val | |
| XM_006711806.3:c.12665C>T | XP_006711869.1:p.Ala4222Val | |
| XM_006711807.3:c.12641C>T | XP_006711870.1:p.Ala4214Val | |
| XM_006711808.3:c.12464C>T | XP_006711871.1:p.Ala4155Val | |
| XM_006711810.3:c.12608C>T | XP_006711873.1:p.Ala4203Val | |
| XM_017002028.1:c.12680C>T | XP_016857517.1:p.Ala4227Val | |
| NM_001035.3:c.12647C>T MANE Select | NP_001026.2:p.Ala4216Val |