Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37840383A>G , CM000683.2:g.37840383A>G | GRCh38 |
| NC_000021.8:g.39212685A>G , CM000683.1:g.39212685A>G | GRCh37 |
| NC_000021.7:g.38134555A>G | NCBI36 |
| NG_029892.2:g.81011T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002240.5:c.25+275T>C MANE Select | NP_002231.1:n.25+275T>C |
| ENST00000609713.2:c.25+275T>C MANE Select | ENSP00000477437.1:n.25+275T>C |
| NM_002240.3:c.25+275T>C | NP_002231.1:n.25+275T>C |
| NM_002240.4:c.25+275T>C | NP_002231.1:n.25+275T>C |
| ENST00000609713.1:c.25+275T>C | ENSP00000477437.1:n.25+275T>C |
| ENST00000645093.1:c.25+275T>C | ENSP00000493772.1:n.25+275T>C |
| XM_011529558.1:c.25+275T>C | XP_011527860.1:n.25+275T>C |
| XM_011529559.1:c.25+275T>C | XP_011527861.1:n.25+275T>C |