HGVS | Genome Assembly |
---|---|
NC_000019.10:g.17816871T>C , CM000681.2:g.17816871T>C | GRCh38 |
NC_000019.9:g.17927680T>C , CM000681.1:g.17927680T>C | GRCh37 |
NC_000019.8:g.17788680T>C | NCBI36 |
NG_012092.1:g.9641A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317306.8:c.379A>G MANE Select | ENSP00000321724.6:p.Thr127Ala | |
ENST00000317306.7:c.379A>G | ENSP00000321724.6:p.Thr127Ala | |
ENST00000379695.5:c.474A>G | ENSP00000369017.4:p.Ter158Trp | |
ENST00000598577.1:c.400A>G | ||
NM_001265587.1:c.474A>G | NP_001252516.1:p.Ter158Trp | |
NM_005543.3:c.379A>G | NP_005534.2:p.Thr127Ala | |
NM_001265587.2:c.474A>G | NP_001252516.1:p.Ter158Trp | |
NM_005543.4:c.379A>G MANE Select | NP_005534.2:p.Thr127Ala |