Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86040415C>G , CM000664.2:g.86040415C>G | GRCh38 |
| NC_000002.11:g.86267538C>G , CM000664.1:g.86267538C>G | GRCh37 |
| NC_000002.10:g.86121049C>G | NCBI36 |
| NG_050742.2:g.70741G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.3717G>C MANE Select | ENSP00000263857.6:p.Met1239Ile | |
| ENST00000263857.10:c.3717G>C | ENSP00000263857.6:p.Met1239Ile | |
| ENST00000409681.1:c.3717G>C | ENSP00000386300.1:p.Met1239Ile | |
| ENST00000462078.1:n.105G>C | ||
| NM_015425.3:c.3717G>C | NP_056240.2:p.Met1239Ile | |
| XM_006711983.2:c.3393G>C | XP_006712046.1:p.Met1131Ile | |
| NM_015425.5:c.3717G>C | NP_056240.2:p.Met1239Ile | |
| NM_015425.6:c.3717G>C MANE Select | NP_056240.2:p.Met1239Ile |