Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529600C= , CM000681.2:g.7529600C= | GRCh38 |
| NC_000019.9:g.7594486C= , CM000681.1:g.7594486C= | GRCh37 |
| NC_000019.8:g.7500486C= | NCBI36 |
| NG_013374.1:g.449C= | |
| NG_015806.1:g.11991C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1247C= MANE Select | ENSP00000264079.5:p.Ala416= | |
| ENST00000264079.10:c.1247C= | ENSP00000264079.5:p.Ala416= | |
| ENST00000394321.9:n.1562C= | ||
| ENST00000594692.1:n.243C= | ||
| ENST00000595860.5:n.430C= | ||
| ENST00000599334.1:c.124C= | ||
| NM_020533.2:c.1247C= | NP_065394.1:p.Ala416= | |
| NM_020533.3:c.1247C= MANE Select | NP_065394.1:p.Ala416= |