HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787494C>G , CM000681.2:g.18787494C>G | GRCh38 |
NC_000019.9:g.18898303C>G , CM000681.1:g.18898303C>G | GRCh37 |
NC_000019.8:g.18759303C>G | NCBI36 |
NG_007070.1:g.8812G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1132G>C MANE Select | ENSP00000222271.2:p.Asp378His | |
ENST00000222271.6:c.1132G>C | ENSP00000222271.2:p.Asp378His | |
ENST00000425807.1:c.973G>C | ENSP00000403792.1:p.Asp325His | |
ENST00000542601.6:c.1033G>C | ENSP00000439156.2:p.Asp345His | |
NM_000095.2:c.1132G>C | NP_000086.2:p.Asp378His | |
NM_000095.3:c.1132G>C MANE Select | NP_000086.2:p.Asp378His |