Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648979T>A , CM000665.2:g.81648979T>A | GRCh38 |
| NC_000003.11:g.81698130T>A , CM000665.1:g.81698130T>A | GRCh37 |
| NC_000003.10:g.81780820T>A | NCBI36 |
| NG_011810.1:g.117822A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.568A>T MANE Select | ENSP00000410833.2:p.Arg190Ter | |
| ENST00000429644.6:c.568A>T | ENSP00000410833.2:p.Arg190Ter | |
| ENST00000486920.1:n.564A>T | ||
| ENST00000489715.1:c.445A>T | ENSP00000419638.1:p.Arg149Ter | |
| ENST00000498468.1:n.96A>T | ||
| NM_000158.3:c.568A>T | NP_000149.3:p.Arg190Ter | |
| NM_000158.4:c.568A>T MANE Select | NP_000149.4:p.Arg190Ter |