Linked Data
gnomAD v4:
10-80273462-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273462G>T , CM000672.2:g.80273462G>T | GRCh38 |
| NC_000010.10:g.82033218G>T , CM000672.1:g.82033218G>T | GRCh37 |
| NC_000010.9:g.82023198G>T | NCBI36 |
| NG_008083.1:g.21217C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.*319C>A MANE Select | ENSP00000361287.3:n.*319C>A | |
| ENST00000372213.7:c.*319C>A | ENSP00000361287.3:n.*319C>A | |
| ENST00000480845.1:n.620+119C>A | ||
| ENST00000485270.5:n.1019C>A | ||
| NM_000429.2:c.*319C>A | NP_000420.1:n.*319C>A | |
| XM_005269842.3:c.*319C>A | XP_005269899.1:n.*319C>A | |
| XM_005269843.3:c.*319C>A | XP_005269900.1:n.*319C>A | |
| NM_000429.3:c.*319C>A MANE Select | NP_000420.1:n.*319C>A |