Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151404975G>A , CM000685.2:g.151404975G>A | GRCh38 |
| NC_000023.10:g.150573447G>A , CM000685.1:g.150573447G>A | GRCh37 |
| NC_000023.9:g.150324105G>A | NCBI36 |
| NG_016761.1:g.12791G>A , LRG_860:g.12791G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001017980.4:c.223G>A MANE Select | NP_001017980.1:p.Ala75Thr |
| ENST00000330374.7:c.223G>A MANE Select | ENSP00000333255.6:p.Ala75Thr |
| NM_001017980.3:c.223G>A , LRG_860t1:c.223G>A | NP_001017980.1:p.Ala75Thr |
| NM_001363810.1:c.388G>A | NP_001350739.1:p.Ala130Thr |
| ENST00000330374.6:c.223G>A | ENSP00000333255.6:p.Ala75Thr |
| ENST00000370361.5:c.388G>A | ENSP00000359386.1:p.Ala130Thr |
| ENST00000477649.1:n.303G>A | |
| XM_011531125.1:c.388G>A | XP_011529427.1:p.Ala130Thr |