Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86031661T>G , CM000664.2:g.86031661T>G | GRCh38 |
| NC_000002.11:g.86258784T>G , CM000664.1:g.86258784T>G | GRCh37 |
| NC_000002.10:g.86112295T>G | NCBI36 |
| NG_050742.2:g.79495A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015425.6:c.4273-26A>C MANE Select | NP_056240.2:n.4273-26A>C |
| ENST00000263857.11:c.4273-26A>C MANE Select | ENSP00000263857.6:n.4273-26A>C |
| NM_015425.3:c.4273-26A>C | NP_056240.2:n.4273-26A>C |
| NM_015425.5:c.4273-26A>C | NP_056240.2:n.4273-26A>C |
| ENST00000263857.10:c.4273-26A>C | ENSP00000263857.6:n.4273-26A>C |
| ENST00000409681.1:c.4273-26A>C | ENSP00000386300.1:n.4273-26A>C |
| ENST00000492034.1:n.457-26A>C | |
| ENST00000496892.5:n.332-26A>C | |
| XM_006711983.2:c.3949-26A>C | XP_006712046.1:n.3949-26A>C |