Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818785C= , CM000671.2:g.129818785C= | GRCh38 |
| NC_000009.11:g.132581064C= , CM000671.1:g.132581064C= | GRCh37 |
| NC_000009.10:g.131620885C= | NCBI36 |
| NG_008049.1:g.10378G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.580G= MANE Select | ENSP00000345719.4:p.Asp194= | |
| ENST00000651202.1:c.676G= | ENSP00000498222.1:p.Asp226= | |
| ENST00000351698.4:c.580G= | ENSP00000345719.4:p.Asp194= | |
| ENST00000473604.2:n.690G= | ||
| NM_000113.2:c.580G= | NP_000104.1:p.Asp194= | |
| XR_929731.1:n.740G= | ||
| XR_929731.3:n.608G= | ||
| NM_000113.3:c.580G= MANE Select | NP_000104.1:p.Asp194= |