Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52813742G>C , CM000674.2:g.52813742G>C | GRCh38 |
| NC_000012.11:g.53207526G>C , CM000674.1:g.53207526G>C | GRCh37 |
| NC_000012.10:g.51493793G>C | NCBI36 |
| NG_007380.1:g.5810C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.317C>G MANE Select | ENSP00000448220.1:p.Ala106Gly | |
| ENST00000548097.5:c.211+106C>G | ENSP00000449755.1:n.211+106C>G | |
| ENST00000551956.1:c.317C>G | ENSP00000448220.1:p.Ala106Gly | |
| ENST00000552668.1:c.212-14C>G | ENSP00000447320.1:n.212-14C>G | |
| NM_002272.3:c.317C>G | NP_002263.3:p.Ala106Gly | |
| NM_002272.4:c.317C>G MANE Select | NP_002263.3:p.Ala106Gly |