Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57236194A>C , CM000673.2:g.57236194A>C | GRCh38 |
| NC_000011.9:g.57003668A>C , CM000673.1:g.57003668A>C | GRCh37 |
| NC_000011.8:g.56760244A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606794.2:c.811T>G MANE Select | ENSP00000475344.1:p.Tyr271Asp | |
| ENST00000257254.3:c.811T>G | ENSP00000257254.3:p.Tyr271Asp | |
| ENST00000606794.1:c.811T>G | ENSP00000475344.1:p.Tyr271Asp | |
| ENST00000611099.1:c.811T>G | ENSP00000477818.1:p.Tyr271Asp | |
| NM_005161.4:c.811T>G | NP_005152.1:p.Tyr271Asp | |
| NR_027991.1:n.1260T>G | ||
| NR_027991.2:n.1057T>G | ||
| NM_005161.6:c.811T>G MANE Select | NP_005152.1:p.Tyr271Asp |