Linked Data
gnomAD v4:
15-38253139-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38253139C>A , CM000677.2:g.38253139C>A | GRCh38 |
| NC_000015.9:g.38545340C>A , CM000677.1:g.38545340C>A | GRCh37 |
| NC_000015.8:g.36332632C>A | NCBI36 |
| NG_008980.1:g.5289C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.-47C>A MANE Select | ENSP00000299084.4:n.-47C>A | |
| ENST00000299084.8:c.-47C>A | ENSP00000299084.4:n.-47C>A | |
| ENST00000561205.1:n.292C>A | ||
| NM_152594.2:c.-47C>A | NP_689807.1:n.-47C>A | |
| XM_005254202.2:c.-47C>A | XP_005254259.1:n.-47C>A | |
| XM_005254203.3:c.-94C>A | XP_005254260.1:n.-94C>A | |
| XM_005254202.3:c.-47C>A | XP_005254259.1:n.-47C>A | |
| XR_001751484.1:n.87+428G>T | ||
| NM_152594.3:c.-47C>A MANE Select | NP_689807.1:n.-47C>A |