Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659135A>G , CM000685.2:g.136659135A>G | GRCh38 |
| NC_000023.10:g.135741294A>G , CM000685.1:g.135741294A>G | GRCh37 |
| NC_000023.9:g.135568960A>G | NCBI36 |
| NG_007280.1:g.15959A>G , LRG_141:g.15959A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000074.3:c.506A>G MANE Select | NP_000065.1:p.Tyr169Cys |
| ENST00000370629.7:c.506A>G MANE Select | ENSP00000359663.2:p.Tyr169Cys |
| NM_000074.2:c.506A>G , LRG_141t1:c.506A>G | NP_000065.1:p.Tyr169Cys |
| ENST00000370628.2:c.443A>G | ENSP00000359662.2:p.Tyr148Cys |
| ENST00000370629.6:c.506A>G | ENSP00000359663.2:p.Tyr169Cys |
| ENST00000695724.1:c.*124A>G | ENSP00000512122.1:n.*124A>G |
| ENST00000695725.1:c.*61A>G | ENSP00000512123.1:n.*61A>G |
| ENST00000695726.1:n.2474A>G | |
| ENST00000695729.1:n.3309A>G |