Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99352946A>T , CM000666.2:g.99352946A>T | GRCh38 |
| NC_000004.11:g.100274103A>T , CM000666.1:g.100274103A>T | GRCh37 |
| NC_000004.10:g.100493126A>T | NCBI36 |
| NG_011718.1:g.4815T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.5:c.-271T>A | ENSP00000426083.1:n.-271T>A | |
| NM_000669.4:c.-271T>A | NP_000660.1:n.-271T>A | |
| NR_133005.1:n.100T>A | ||
| XM_011531588.1:c.-271T>A | XP_011529890.1:n.-271T>A | |
| XM_011531589.1:c.-511T>A | XP_011529891.1:n.-511T>A |