Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659144A>G , CM000685.2:g.136659144A>G | GRCh38 |
| NC_000023.10:g.135741303A>G , CM000685.1:g.135741303A>G | GRCh37 |
| NC_000023.9:g.135568969A>G | NCBI36 |
| NG_007280.1:g.15968A>G , LRG_141:g.15968A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000074.3:c.515A>G MANE Select | NP_000065.1:p.Tyr172Cys |
| ENST00000370629.7:c.515A>G MANE Select | ENSP00000359663.2:p.Tyr172Cys |
| NM_000074.2:c.515A>G , LRG_141t1:c.515A>G | NP_000065.1:p.Tyr172Cys |
| ENST00000370628.2:c.452A>G | ENSP00000359662.2:p.Tyr151Cys |
| ENST00000370629.6:c.515A>G | ENSP00000359663.2:p.Tyr172Cys |
| ENST00000695724.1:c.*133A>G | ENSP00000512122.1:n.*133A>G |
| ENST00000695725.1:c.*70A>G | ENSP00000512123.1:n.*70A>G |
| ENST00000695726.1:n.2483A>G | |
| ENST00000695729.1:n.3318A>G |