Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648986C>T , CM000665.2:g.81648986C>T | GRCh38 |
| NC_000003.11:g.81698137C>T , CM000665.1:g.81698137C>T | GRCh37 |
| NC_000003.10:g.81780827C>T | NCBI36 |
| NG_011810.1:g.117815G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.561G>A MANE Select | ENSP00000410833.2:p.Lys187= | |
| ENST00000429644.6:c.561G>A | ENSP00000410833.2:p.Lys187= | |
| ENST00000486920.1:n.557G>A | ||
| ENST00000489715.1:c.438G>A | ENSP00000419638.1:p.Lys146= | |
| ENST00000498468.1:n.89G>A | ||
| NM_000158.3:c.561G>A | NP_000149.3:p.Lys187= | |
| NM_000158.4:c.561G>A MANE Select | NP_000149.4:p.Lys187= |