Linked Data
gnomAD v4:
8-38144246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144246G>A , CM000670.2:g.38144246G>A | GRCh38 |
| NC_000008.10:g.38001764G>A , CM000670.1:g.38001764G>A | GRCh37 |
| NC_000008.9:g.38120921G>A | NCBI36 |
| NG_011827.1:g.11837C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*27C>T MANE Select | ENSP00000276449.3:n.*27C>T | |
| ENST00000276449.8:c.*27C>T | ENSP00000276449.3:n.*27C>T | |
| ENST00000520114.1:n.2854C>T | ||
| ENST00000522050.1:c.727C>T | ||
| NM_000349.2:c.*27C>T | NP_000340.2:n.*27C>T | |
| XM_006716392.1:c.791C>T | XP_006716455.1:p.Ala264Val | |
| NM_000349.3:c.*27C>T MANE Select | NP_000340.2:n.*27C>T |