Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48997267C>A , CM000674.2:g.48997267C>A | GRCh38 |
| NC_000012.11:g.49391050C>A , CM000674.1:g.49391050C>A | GRCh37 |
| NC_000012.10:g.47677317C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421952.3:c.1609G>T MANE Select | ENSP00000390590.2:p.Gly537Trp | |
| ENST00000421952.2:c.1609G>T | ENSP00000390590.2:p.Gly537Trp | |
| NM_015086.1:c.1609G>T | NP_055901.2:p.Gly537Trp | |
| XM_011538055.1:c.1447G>T | XP_011536357.1:p.Gly483Trp | |
| XM_011538055.3:c.1447G>T | XP_011536357.1:p.Gly483Trp | |
| NM_015086.2:c.1609G>T MANE Select | NP_055901.2:p.Gly537Trp |