Linked Data
dbSNP Id:
rs748079742
ExAC:
8:38001760 C / T
gnomAD v2:
8-38001760-C-T
gnomAD v4:
8-38144242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144242C>T , CM000670.2:g.38144242C>T | GRCh38 |
| NC_000008.10:g.38001760C>T , CM000670.1:g.38001760C>T | GRCh37 |
| NC_000008.9:g.38120917C>T | NCBI36 |
| NG_011827.1:g.11841G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*31G>A MANE Select | ENSP00000276449.3:n.*31G>A | |
| ENST00000276449.8:c.*31G>A | ENSP00000276449.3:n.*31G>A | |
| ENST00000520114.1:n.2858G>A | ||
| ENST00000522050.1:c.731G>A | ||
| NM_000349.2:c.*31G>A | NP_000340.2:n.*31G>A | |
| XM_006716392.1:c.795G>A | XP_006716455.1:p.Gln265= | |
| NM_000349.3:c.*31G>A MANE Select | NP_000340.2:n.*31G>A |