Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201399279C>T , CM000663.2:g.201399279C>T | GRCh38 |
| NC_000001.10:g.201368407C>T , CM000663.1:g.201368407C>T | GRCh37 |
| NC_000001.9:g.199635030C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391967.7:c.28G>A MANE Select | ENSP00000375829.2:p.Ala10Thr | |
| ENST00000367313.4:c.80+131G>A | ENSP00000356282.3:n.80+131G>A | |
| ENST00000391967.6:c.28G>A | ENSP00000375829.2:p.Ala10Thr | |
| ENST00000631576.1:c.38+599G>A | ENSP00000488829.1:n.38+599G>A | |
| ENST00000633953.1:c.-25G>A | ENSP00000487726.1:n.-25G>A | |
| NM_005558.3:c.28G>A | NP_005549.2:p.Ala10Thr | |
| NM_005558.4:c.28G>A MANE Select | NP_005549.2:p.Ala10Thr |