Linked Data
ClinVar Variation Id:
1546916
ClinVar RCV Id:
RCV002175084
dbSNP Id:
rs369264665
ExAC:
1:154543728 C / T
gnomAD v2:
1-154543728-C-T
gnomAD v3:
1-154571252-C-T
gnomAD v4:
1-154571252-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571252C>T , CM000663.2:g.154571252C>T | GRCh38 |
| NC_000001.10:g.154543728C>T , CM000663.1:g.154543728C>T | GRCh37 |
| NC_000001.9:g.152810352C>T | NCBI36 |
| NG_008027.1:g.8472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.429C>T MANE Select | ENSP00000357461.3:p.Ile143= | |
| ENST00000636034.1:c.429C>T | ENSP00000489703.1:p.Ile143= | |
| ENST00000637900.1:c.435C>T | ENSP00000490474.1:p.Ile145= | |
| ENST00000368476.3:c.429C>T | ENSP00000357461.3:p.Ile143= | |
| NM_000748.2:c.429C>T | NP_000739.1:p.Ile143= | |
| XM_017000180.2:c.-9-73C>T | XP_016855669.1:n.-9-73C>T | |
| XR_001736952.2:n.681C>T | ||
| NM_000748.3:c.429C>T MANE Select | NP_000739.1:p.Ile143= |