Linked Data
ClinVar Variation Id:
315728
ClinVar RCV Id:
RCV000277494
dbSNP Id:
rs556907443
gnomAD v2:
15-38545196-C-T
gnomAD v3:
15-38252995-C-T
gnomAD v4:
15-38252995-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38252995C>T , CM000677.2:g.38252995C>T | GRCh38 |
| NC_000015.9:g.38545196C>T , CM000677.1:g.38545196C>T | GRCh37 |
| NC_000015.8:g.36332488C>T | NCBI36 |
| NG_008980.1:g.5145C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.-191C>T MANE Select | ENSP00000299084.4:n.-191C>T | |
| ENST00000299084.8:c.-191C>T | ENSP00000299084.4:n.-191C>T | |
| ENST00000561205.1:n.148C>T | ||
| NM_152594.2:c.-191C>T | NP_689807.1:n.-191C>T | |
| XM_005254202.2:c.-191C>T | XP_005254259.1:n.-191C>T | |
| XM_005254203.3:c.-238C>T | XP_005254260.1:n.-238C>T | |
| XM_005254202.3:c.-191C>T | XP_005254259.1:n.-191C>T | |
| XR_001751484.1:n.87+572G>A | ||
| NM_152594.3:c.-191C>T MANE Select | NP_689807.1:n.-191C>T |