Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151615748T>C , CM000668.2:g.151615748T>C | GRCh38 |
| NC_000006.11:g.151936883T>C , CM000668.1:g.151936883T>C | GRCh37 |
| NC_000006.10:g.151978576T>C | NCBI36 |
| NG_021198.1:g.126709T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1947+69T>C MANE Select | ENSP00000239374.6:n.1947+69T>C | |
| ENST00000239374.7:c.1947+69T>C | ENSP00000239374.6:n.1947+69T>C | |
| NM_025059.3:c.1947+69T>C | NP_079335.2:n.1947+69T>C | |
| XM_011536147.1:c.1965+69T>C | XP_011534449.1:n.1965+69T>C | |
| XM_011536148.1:c.1764+69T>C | XP_011534450.1:n.1764+69T>C | |
| XM_011536147.2:c.1965+69T>C | XP_011534449.1:n.1965+69T>C | |
| XM_011536148.2:c.1764+69T>C | XP_011534450.1:n.1764+69T>C | |
| XR_001743865.1:n.129+973A>G | ||
| NM_025059.4:c.1947+69T>C MANE Select | NP_079335.2:n.1947+69T>C |