Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922731G>A , CM000676.2:g.102922731G>A | GRCh38 |
| NC_000014.8:g.103389068G>A , CM000676.1:g.103389068G>A | GRCh37 |
| NC_000014.7:g.102458821G>A | NCBI36 |
| NG_008276.2:g.5076G>A , LRG_642:g.5076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.43G>A MANE Select | ENSP00000299155.6:p.Ala15Thr | |
| ENST00000299155.9:c.43G>A | ENSP00000299155.5:p.Ala15Thr | |
| NM_030943.3:c.43G>A , LRG_642t1:c.43G>A | NP_112205.2:p.Ala15Thr | |
| XM_011537202.1:c.-139G>A | XP_011535504.1:n.-139G>A | |
| XM_011537202.3:c.-139G>A | XP_011535504.1:n.-139G>A | |
| XM_024449714.1:c.139G>A | XP_024305482.1:p.Ala47Thr | |
| NM_030943.4:c.43G>A MANE Select | NP_112205.2:p.Ala15Thr |