Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286068C= , CM000683.2:g.44286068C= | GRCh38 |
| NC_000021.8:g.45705951C= , CM000683.1:g.45705951C= | GRCh37 |
| NC_000021.7:g.44530379C= | NCBI36 |
| NG_009556.1:g.5189C= , LRG_18:g.5189C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.62C= MANE Select | NP_000374.1:p.Ala21= |
| ENST00000291582.6:c.62C= MANE Select | ENSP00000291582.5:p.Ala21= |
| NM_000383.3:c.62C= | NP_000374.1:p.Ala21= |
| ENST00000291582.5:c.62C= | ENSP00000291582.5:p.Ala21= |
| ENST00000527919.5:n.223C= | |
| ENST00000530812.5:n.231C= | |
| XM_011529551.1:c.62C= | XP_011527853.1:p.Ala21= |