Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74716573G= , CM000678.2:g.74716573G= | GRCh38 |
| NC_000016.9:g.74750471G= , CM000678.1:g.74750471G= | GRCh37 |
| NC_000016.8:g.73307972G= | NCBI36 |
| NG_017070.1:g.63259C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.813C= MANE Select | ENSP00000219368.3:p.Val271= | |
| ENST00000219368.7:c.813C= | ENSP00000219368.3:p.Val271= | |
| ENST00000562145.1:n.534C= | ||
| ENST00000567683.5:c.*92C= | ENSP00000455126.1:n.*92C= | |
| NM_024306.4:c.813C= | NP_077282.3:p.Val271= | |
| XM_011523319.1:c.573C= | XP_011521621.1:p.Val191= | |
| XM_011523317.3:c.*1677C= | XP_011521619.1:n.*1677C= | |
| XM_011523319.2:c.573C= | XP_011521621.1:p.Val191= | |
| NM_024306.5:c.813C= MANE Select | NP_077282.3:p.Val271= |