Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818819G= , CM000671.2:g.129818819G= | GRCh38 |
| NC_000009.11:g.132581098G= , CM000671.1:g.132581098G= | GRCh37 |
| NC_000009.10:g.131620919G= | NCBI36 |
| NG_008049.1:g.10344C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.546C= MANE Select | ENSP00000345719.4:p.Ala182= | |
| ENST00000651202.1:c.642C= | ENSP00000498222.1:p.Ala214= | |
| ENST00000351698.4:c.546C= | ENSP00000345719.4:p.Ala182= | |
| ENST00000473604.2:n.656C= | ||
| NM_000113.2:c.546C= | NP_000104.1:p.Ala182= | |
| XR_929731.1:n.706C= | ||
| XR_929731.3:n.574C= | ||
| NM_000113.3:c.546C= MANE Select | NP_000104.1:p.Ala182= |