Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66026109G>C , CM000673.2:g.66026109G>C | GRCh38 |
| NC_000011.9:g.65793580G>C , CM000673.1:g.65793580G>C | GRCh37 |
| NC_000011.8:g.65550156G>C | NCBI36 |
| NG_016285.1:g.5409C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053054.4:c.271C>G MANE Select | NP_444282.3:p.His91Asp |
| ENST00000312106.6:c.271C>G MANE Select | ENSP00000309052.5:p.His91Asp |
| NM_053054.3:c.271C>G | NP_444282.3:p.His91Asp |
| ENST00000312106.5:c.271C>G | ENSP00000309052.5:p.His91Asp |
| XR_002957121.1:n.409C>G | |
| XR_002957122.1:n.410C>G | |
| XR_949785.1:n.411C>G | |
| XR_949785.2:n.409C>G | |
| XR_949786.1:n.411C>G | |
| XR_949787.1:n.411C>G | |
| XR_949787.2:n.410C>G |