Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3398043T>C , CM000679.2:g.3398043T>C | GRCh38 |
| NC_000017.10:g.3301337T>C , CM000679.1:g.3301337T>C | GRCh37 |
| NC_000017.9:g.3248087T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003553.3:c.368A>G MANE Select | NP_003544.2:p.Tyr123Cys |
| ENST00000322608.2:c.368A>G MANE Select | ENSP00000313384.2:p.Tyr123Cys |
| NM_003553.2:c.368A>G | NP_003544.2:p.Tyr123Cys |