HGVS | Genome Assembly |
---|---|
NC_000005.10:g.93585393G>A , CM000667.2:g.93585393G>A | GRCh38 |
NC_000005.9:g.92921099G>A , CM000667.1:g.92921099G>A | GRCh37 |
NC_000005.8:g.92946855G>A | NCBI36 |
NG_034119.1:g.7057G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000615873.2:c.295G>A | ENSP00000481517.1:p.Ala99Thr | |
ENST00000327111.8:c.370G>A MANE Select | ENSP00000325819.3:p.Ala124Thr | |
ENST00000647447.1:c.217G>A | ENSP00000495740.1:p.Ala73Thr | |
ENST00000327111.7:c.370G>A | ENSP00000325819.3:p.Ala124Thr | |
ENST00000615873.1:c.295G>A | ENSP00000481517.1:p.Ala99Thr | |
NM_005654.5:c.370G>A | NP_005645.1:p.Ala124Thr | |
NM_005654.6:c.370G>A MANE Select | NP_005645.1:p.Ala124Thr |