Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86040359A>G , CM000664.2:g.86040359A>G | GRCh38 |
| NC_000002.11:g.86267482A>G , CM000664.1:g.86267482A>G | GRCh37 |
| NC_000002.10:g.86120993A>G | NCBI36 |
| NG_050742.2:g.70797T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.3740+33T>C MANE Select | ENSP00000263857.6:n.3740+33T>C | |
| ENST00000263857.10:c.3740+33T>C | ENSP00000263857.6:n.3740+33T>C | |
| ENST00000409681.1:c.3740+33T>C | ENSP00000386300.1:n.3740+33T>C | |
| ENST00000462078.1:n.128+33T>C | ||
| NM_015425.3:c.3740+33T>C | NP_056240.2:n.3740+33T>C | |
| XM_006711983.2:c.3416+33T>C | XP_006712046.1:n.3416+33T>C | |
| NM_015425.5:c.3740+33T>C | NP_056240.2:n.3740+33T>C | |
| NM_015425.6:c.3740+33T>C MANE Select | NP_056240.2:n.3740+33T>C |