Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213557T>G , CM000667.2:g.1213557T>G | GRCh38 |
| NC_000005.9:g.1213672T>G , CM000667.1:g.1213672T>G | GRCh37 |
| NC_000005.8:g.1266672T>G | NCBI36 |
| NG_008282.1:g.16963T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.758T>G MANE Select | ENSP00000305302.10:p.Phe253Cys | |
| ENST00000304460.10:c.758T>G | ENSP00000305302.10:p.Phe253Cys | |
| ENST00000515652.5:c.666T>G | ENSP00000425701.1:p.Leu222= | |
| NM_001003841.2:c.758T>G | NP_001003841.1:p.Phe253Cys | |
| NM_001003841.3:c.758T>G MANE Select | NP_001003841.1:p.Phe253Cys |