Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10912894A>G , CM000664.2:g.10912894A>G | GRCh38 |
| NC_000002.11:g.11053020A>G , CM000664.1:g.11053020A>G | GRCh37 |
| NC_000002.10:g.10970471A>G | NCBI36 |
| NG_050750.1:g.5958A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295082.3:c.468A>G MANE Select | ENSP00000295082.1:p.Ala156= | |
| ENST00000295082.2:c.468A>G | ENSP00000295082.1:p.Ala156= | |
| NM_002236.4:c.468A>G | NP_002227.2:p.Ala156= | |
| NM_002236.5:c.468A>G MANE Select | NP_002227.2:p.Ala156= |