Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66025436T>G , CM000673.2:g.66025436T>G | GRCh38 |
| NC_000011.9:g.65792907T>G , CM000673.1:g.65792907T>G | GRCh37 |
| NC_000011.8:g.65549483T>G | NCBI36 |
| NG_016285.1:g.6082A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312106.6:c.944A>C MANE Select | ENSP00000309052.5:p.His315Pro | |
| ENST00000312106.5:c.944A>C | ENSP00000309052.5:p.His315Pro | |
| NM_053054.3:c.944A>C | NP_444282.3:p.His315Pro | |
| XR_949785.1:n.1084A>C | ||
| XR_949786.1:n.1084A>C | ||
| XR_949787.1:n.1084A>C | ||
| XR_002957121.1:n.1082A>C | ||
| XR_002957122.1:n.1083A>C | ||
| XR_949785.2:n.1082A>C | ||
| XR_949787.2:n.1083A>C | ||
| NM_053054.4:c.944A>C MANE Select | NP_444282.3:p.His315Pro |