Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99352975A>C , CM000666.2:g.99352975A>C | GRCh38 |
| NC_000004.11:g.100274132A>C , CM000666.1:g.100274132A>C | GRCh37 |
| NC_000004.10:g.100493155A>C | NCBI36 |
| NG_011718.1:g.4786T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.5:c.-300T>G | ENSP00000426083.1:n.-300T>G | |
| NM_000669.4:c.-300T>G | NP_000660.1:n.-300T>G | |
| NR_133005.1:n.71T>G | ||
| XM_011531588.1:c.-300T>G | XP_011529890.1:n.-300T>G | |
| XM_011531589.1:c.-540T>G | XP_011529891.1:n.-540T>G |