Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425603C>A , CM000664.2:g.84425603C>A | GRCh38 |
| NC_000002.11:g.84652727C>A , CM000664.1:g.84652727C>A | GRCh37 |
| NC_000002.10:g.84506238C>A | NCBI36 |
| NG_016755.1:g.38860G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.826G>T MANE Select | ENSP00000377446.2:p.Gly276Cys | |
| ENST00000651342.1:c.*266G>T | ENSP00000498471.1:n.*266G>T | |
| ENST00000393868.6:c.826G>T | ENSP00000377446.2:p.Gly276Cys | |
| ENST00000484365.1:n.1334G>T | ||
| ENST00000487809.1:n.573G>T | ||
| ENST00000491123.5:n.672G>T | ||
| NM_003849.3:c.826G>T | NP_003840.2:p.Gly276Cys | |
| NM_003849.4:c.826G>T MANE Select | NP_003840.2:p.Gly276Cys |