Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908330C>G , CM000663.2:g.147908330C>G | GRCh38 |
| NC_000001.10:g.147380457C>G , CM000663.1:g.147380457C>G | GRCh37 |
| NC_000001.9:g.145847081C>G | NCBI36 |
| NG_016242.1:g.10512C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.375C>G MANE Select | ENSP00000358238.1:p.Asp125Glu | |
| ENST00000369235.1:c.375C>G | ENSP00000358238.1:p.Asp125Glu | |
| NM_005267.4:c.375C>G | NP_005258.2:p.Asp125Glu | |
| XM_011509416.1:c.375C>G | XP_011507718.1:p.Asp125Glu | |
| XM_011509417.1:c.375C>G | XP_011507719.1:p.Asp125Glu | |
| XM_011509417.2:c.375C>G | XP_011507719.1:p.Asp125Glu | |
| XR_002956281.1:n.1290C>G | ||
| NM_005267.5:c.375C>G MANE Select | NP_005258.2:p.Asp125Glu |