Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52814028C>G , CM000674.2:g.52814028C>G | GRCh38 |
| NC_000012.11:g.53207812C>G , CM000674.1:g.53207812C>G | GRCh37 |
| NC_000012.10:g.51494079C>G | NCBI36 |
| NG_007380.1:g.5524G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002272.4:c.31G>C MANE Select | NP_002263.3:p.Gly11Arg |
| ENST00000551956.2:c.31G>C MANE Select | ENSP00000448220.1:p.Gly11Arg |
| NM_002272.3:c.31G>C | NP_002263.3:p.Gly11Arg |
| ENST00000548097.5:c.31G>C | ENSP00000449755.1:p.Gly11Arg |
| ENST00000551956.1:c.31G>C | ENSP00000448220.1:p.Gly11Arg |
| ENST00000552668.1:c.31G>C | ENSP00000447320.1:p.Gly11Arg |