HGVS | Genome Assembly |
---|---|
NC_000001.11:g.149927756C>T , CM000663.2:g.149927756C>T | GRCh38 |
NC_000001.10:g.149899648C>T , CM000663.1:g.149899648C>T | GRCh37 |
NC_000001.9:g.148166272C>T | NCBI36 |
NG_032777.1:g.5497G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271628.9:c.4G>A MANE Select | ENSP00000271628.8:p.Ala2Thr | |
ENST00000271628.8:c.4G>A | ENSP00000271628.8:p.Ala2Thr | |
NM_005850.4:c.4G>A | NP_005841.1:p.Ala2Thr | |
NM_005850.5:c.4G>A MANE Select | NP_005841.1:p.Ala2Thr |