Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66386717C>T , CM000677.2:g.66386717C>T | GRCh38 |
| NC_000015.9:g.66679055C>T , CM000677.1:g.66679055C>T | GRCh37 |
| NC_000015.8:g.64466109C>T | NCBI36 |
| NG_008305.1:g.4845C>T , LRG_725:g.4845C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001398281.1:c.-76G>A | NP_001385210.1:n.-76G>A |
| NM_001398283.1:c.-119G>A | NP_001385212.1:n.-119G>A |
| NM_001398285.1:c.-303G>A | NP_001385214.1:n.-303G>A |
| NM_001398286.1:c.-346G>A | NP_001385215.1:n.-346G>A |
| ENST00000562124.5:c.-119G>A | ENSP00000457406.1:n.-119G>A |
| ENST00000570251.1:c.-306G>A | ENSP00000458117.1:n.-306G>A |
| XM_005254521.2:c.-76G>A | XP_005254578.1:n.-76G>A |
| XM_005254521.3:c.66G>A | XP_005254578.2:p.Pro22= |
| XM_017022391.2:c.-303G>A | XP_016877880.1:n.-303G>A |
| XM_024449971.1:c.-213G>A | XP_024305739.1:n.-213G>A |
| XM_024449972.1:c.-119G>A | XP_024305740.1:n.-119G>A |