Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74714190T>A , CM000678.2:g.74714190T>A | GRCh38 |
| NC_000016.9:g.74748088T>A , CM000678.1:g.74748088T>A | GRCh37 |
| NC_000016.8:g.73305589T>A | NCBI36 |
| NG_017070.1:g.65642A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024306.5:c.1119A>T MANE Select | NP_077282.3:p.Ter373Cys |
| ENST00000219368.8:c.1119A>T MANE Select | ENSP00000219368.3:p.Ter373Cys |
| NM_024306.4:c.1119A>T | NP_077282.3:p.Ter373Cys |
| ENST00000219368.7:c.1119A>T | ENSP00000219368.3:p.Ter373Cys |
| ENST00000562145.1:n.840A>T | |
| ENST00000567683.5:c.*398A>T | ENSP00000455126.1:n.*398A>T |
| XM_011523319.1:c.879A>T | XP_011521621.1:p.Ter293Cys |
| XM_011523319.2:c.879A>T | XP_011521621.1:p.Ter293Cys |