Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85477191C>G , CM000670.2:g.85477191C>G | GRCh38 |
| NC_000008.10:g.86389420C>G , CM000670.1:g.86389420C>G | GRCh37 |
| NC_000008.9:g.86576672C>G | NCBI36 |
| NG_007287.1:g.18175C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000067.3:c.579C>G MANE Select | NP_000058.1:p.Tyr193Ter |
| ENST00000285379.10:c.579C>G MANE Select | ENSP00000285379.4:p.Tyr193Ter |
| NM_000067.2:c.579C>G | NP_000058.1:p.Tyr193Ter |
| NM_001293675.1:c.276C>G | NP_001280604.1:p.Tyr92Ter |
| NM_001293675.2:c.276C>G | NP_001280604.1:p.Tyr92Ter |
| ENST00000285379.9:c.579C>G | ENSP00000285379.4:p.Tyr193Ter |
| ENST00000520127.5:c.*166C>G | ENSP00000428443.1:n.*166C>G |