HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18786128C>G , CM000681.2:g.18786128C>G | GRCh38 |
NC_000019.9:g.18896938C>G , CM000681.1:g.18896938C>G | GRCh37 |
NC_000019.8:g.18757938C>G | NCBI36 |
NG_007070.1:g.10177G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1326G>C MANE Select | ENSP00000222271.2:p.Gln442His | |
ENST00000222271.6:c.1326G>C | ENSP00000222271.2:p.Gln442His | |
ENST00000425807.1:c.1167G>C | ENSP00000403792.1:p.Gln389His | |
ENST00000542601.6:c.1227G>C | ENSP00000439156.2:p.Gln409His | |
ENST00000612179.1:n.576G>C | ||
NM_000095.2:c.1326G>C | NP_000086.2:p.Gln442His | |
NM_000095.3:c.1326G>C MANE Select | NP_000086.2:p.Gln442His |