Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30738669T>C , CM000675.2:g.30738669T>C | GRCh38 |
| NC_000013.10:g.31312806T>C , CM000675.1:g.31312806T>C | GRCh37 |
| NC_000013.9:g.30210806T>C | NCBI36 |
| NG_011963.2:g.30192T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380490.5:c.70+2994T>C MANE Select | ENSP00000369858.3:n.70+2994T>C | |
| ENST00000380490.4:c.70+2994T>C | ENSP00000369858.3:n.70+2994T>C | |
| ENST00000617770.4:c.241+2994T>C | ENSP00000479870.1:n.241+2994T>C | |
| NM_001204406.1:c.241+2994T>C | NP_001191335.1:n.241+2994T>C | |
| NM_001629.3:c.70+2994T>C | NP_001620.2:n.70+2994T>C | |
| XM_011535024.1:c.70+2994T>C | XP_011533326.1:n.70+2994T>C | |
| NM_001204406.2:c.241+2994T>C | NP_001191335.1:n.241+2994T>C | |
| NM_001629.4:c.70+2994T>C MANE Select | NP_001620.2:n.70+2994T>C |