Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74716476C>A , CM000678.2:g.74716476C>A | GRCh38 |
| NC_000016.9:g.74750374C>A , CM000678.1:g.74750374C>A | GRCh37 |
| NC_000016.8:g.73307875C>A | NCBI36 |
| NG_017070.1:g.63356G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024306.5:c.910G>T MANE Select | NP_077282.3:p.Gly304Cys |
| ENST00000219368.8:c.910G>T MANE Select | ENSP00000219368.3:p.Gly304Cys |
| NM_024306.4:c.910G>T | NP_077282.3:p.Gly304Cys |
| ENST00000219368.7:c.910G>T | ENSP00000219368.3:p.Gly304Cys |
| ENST00000562145.1:n.631G>T | |
| ENST00000567683.5:c.*189G>T | ENSP00000455126.1:n.*189G>T |
| XM_011523317.3:c.*1774G>T | XP_011521619.1:n.*1774G>T |
| XM_011523319.1:c.670G>T | XP_011521621.1:p.Gly224Cys |
| XM_011523319.2:c.670G>T | XP_011521621.1:p.Gly224Cys |