Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818847T>G , CM000671.2:g.129818847T>G | GRCh38 |
| NC_000009.11:g.132581126T>G , CM000671.1:g.132581126T>G | GRCh37 |
| NC_000009.10:g.131620947T>G | NCBI36 |
| NG_008049.1:g.10316A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.518A>C MANE Select | ENSP00000345719.4:p.Asp173Ala | |
| ENST00000651202.1:c.614A>C | ENSP00000498222.1:p.Asp205Ala | |
| ENST00000351698.4:c.518A>C | ENSP00000345719.4:p.Asp173Ala | |
| ENST00000473604.2:n.628A>C | ||
| NM_000113.2:c.518A>C | NP_000104.1:p.Asp173Ala | |
| XR_929731.1:n.678A>C | ||
| XR_929731.3:n.546A>C | ||
| NM_000113.3:c.518A>C MANE Select | NP_000104.1:p.Asp173Ala |