Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75289442A>T , CM000679.2:g.75289442A>T | GRCh38 |
| NC_000017.10:g.73285523A>T , CM000679.1:g.73285523A>T | GRCh37 |
| NC_000017.9:g.70797118A>T | NCBI36 |
| NG_008274.1:g.5008T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001126121.1:c.-217T>A | NP_001119593.1:n.-217T>A |
| NM_001126122.1:c.-127T>A | NP_001119594.1:n.-127T>A |
| NM_021734.4:c.-201T>A | NP_068380.3:n.-201T>A |
| ENST00000375261.8:c.-217T>A | ENSP00000364410.4:n.-217T>A |
| ENST00000579228.1:n.8T>A | |
| ENST00000580273.1:c.-260T>A | ENSP00000463039.1:n.-260T>A |
| XM_005257559.2:c.-331T>A | XP_005257616.1:n.-331T>A |
| XM_005257559.4:c.-331T>A | XP_005257616.1:n.-331T>A |
| XM_005257561.2:c.-221T>A | XP_005257618.1:n.-221T>A |
| XM_005257561.4:c.-221T>A | XP_005257618.1:n.-221T>A |
| XM_011525098.1:c.-201T>A | XP_011523400.1:n.-201T>A |
| XM_017024927.2:c.-260T>A | XP_016880416.1:n.-260T>A |
| XM_017024928.2:c.-217T>A | XP_016880417.1:n.-217T>A |