Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160881982T>C , CM000663.2:g.160881982T>C | GRCh38 |
| NC_000001.10:g.160851772T>C , CM000663.1:g.160851772T>C | GRCh37 |
| NC_000001.9:g.159118396T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.380A>G MANE Select | ENSP00000323587.3:p.Glu127Gly | |
| ENST00000326245.3:c.380A>G | ENSP00000323587.3:p.Glu127Gly | |
| ENST00000464077.1:n.314A>G | ||
| NM_017625.2:c.380A>G | NP_060095.2:p.Glu127Gly | |
| NM_017625.3:c.380A>G MANE Select | NP_060095.2:p.Glu127Gly |