Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74689339A>G , CM000667.2:g.74689339A>G | GRCh38 |
| NC_000005.9:g.73985164A>G , CM000667.1:g.73985164A>G | GRCh37 |
| NC_000005.8:g.74020920A>G | NCBI36 |
| NG_009770.1:g.9196A>G | |
| NG_009770.2:g.54317A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.311A>G MANE Select | NP_000512.2:p.Tyr104Cys |
| ENST00000261416.12:c.311A>G MANE Select | ENSP00000261416.7:p.Tyr104Cys |
| NM_000521.3:c.311A>G | NP_000512.1:p.Tyr104Cys |
| NM_001292004.1:c.-365A>G | NP_001278933.1:n.-365A>G |
| NM_001292004.2:c.-365A>G | NP_001278933.1:n.-365A>G |
| ENST00000261416.11:c.311A>G | ENSP00000261416.7:p.Tyr104Cys |
| ENST00000511181.5:c.-365A>G | ENSP00000426285.1:n.-365A>G |
| ENST00000513079.5:n.376A>G | |
| ENST00000515528.1:n.366A>G |