Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55005002T>G , CM000663.2:g.55005002T>G | GRCh38 |
| NC_000001.10:g.55470675T>G , CM000663.1:g.55470675T>G | GRCh37 |
| NC_000001.9:g.55243263T>G | NCBI36 |
| NG_008965.1:g.11059T>G | |
| NG_008965.2:g.11070T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.178-20T>G MANE Select | ENSP00000498282.1:n.178-20T>G | |
| ENST00000371265.4:c.178-20T>G | ENSP00000360312.4:n.178-20T>G | |
| NM_057176.2:c.178-20T>G | NP_476517.1:n.178-20T>G | |
| XM_006710883.2:c.-54-20T>G | XP_006710946.1:n.-54-20T>G | |
| NM_057176.3:c.178-20T>G MANE Select | NP_476517.1:n.178-20T>G |