Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52807137C>G , CM000674.2:g.52807137C>G | GRCh38 |
| NC_000012.11:g.53200921C>G , CM000674.1:g.53200921C>G | GRCh37 |
| NC_000012.10:g.51487188C>G | NCBI36 |
| NG_007380.1:g.12415G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002272.4:c.1495G>C MANE Select | NP_002263.3:p.Gly499Arg |
| ENST00000551956.2:c.1495G>C MANE Select | ENSP00000448220.1:p.Gly499Arg |
| NM_002272.3:c.1495G>C | NP_002263.3:p.Gly499Arg |
| ENST00000548097.5:c.*1007G>C | ENSP00000449755.1:n.*1007G>C |
| ENST00000551956.1:c.1495G>C | ENSP00000448220.1:p.Gly499Arg |