Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6110568T>C , CM000674.2:g.6110568T>C | GRCh38 |
| NC_000012.11:g.6219734T>C , CM000674.1:g.6219734T>C | GRCh37 |
| NC_000012.10:g.6089995T>C | NCBI36 |
| NG_009072.1:g.19103A>G | |
| NG_009072.2:g.19103A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.338A>G MANE Select | NP_000543.3:p.Tyr113Cys |
| ENST00000261405.10:c.338A>G MANE Select | ENSP00000261405.5:p.Tyr113Cys |
| NM_000552.3:c.338A>G | NP_000543.2:p.Tyr113Cys |
| NM_000552.4:c.338A>G | NP_000543.2:p.Tyr113Cys |
| ENST00000261405.9:c.338A>G | ENSP00000261405.5:p.Tyr113Cys |
| ENST00000321023.5:c.*397A>G | ENSP00000461331.1:n.*397A>G |
| ENST00000538635.5:n.367A>G |