Linked Data
gnomAD v4:
8-38144308-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144308G>T , CM000670.2:g.38144308G>T | GRCh38 |
| NC_000008.10:g.38001826G>T , CM000670.1:g.38001826G>T | GRCh37 |
| NC_000008.9:g.38120983G>T | NCBI36 |
| NG_011827.1:g.11775C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.823C>A MANE Select | ENSP00000276449.3:p.Leu275Met | |
| ENST00000276449.8:c.823C>A | ENSP00000276449.3:p.Leu275Met | |
| ENST00000520114.1:n.2792C>A | ||
| ENST00000522050.1:c.665C>A | ||
| NM_000349.2:c.823C>A | NP_000340.2:p.Leu275Met | |
| XM_006716392.1:c.729C>A | XP_006716455.1:p.Ala243= | |
| NM_000349.3:c.823C>A MANE Select | NP_000340.2:p.Leu275Met |