Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52688086T>C , CM000663.2:g.52688086T>C | GRCh38 |
| NC_000001.10:g.53153758T>C , CM000663.1:g.53153758T>C | GRCh37 |
| NC_000001.9:g.52926346T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371538.5:c.330A>G MANE Select | ENSP00000360593.3:p.Ala110= | |
| ENST00000371538.4:c.330A>G | ENSP00000360593.3:p.Ala110= | |
| ENST00000486918.1:n.384A>G | ||
| NM_023077.2:c.330A>G | NP_075565.2:p.Ala110= | |
| NM_023077.3:c.330A>G MANE Select | NP_075565.2:p.Ala110= |