HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43417102C>G , CM000683.2:g.43417102C>G | GRCh38 |
NG_052009.1:g.15031G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270162.8:c.1992G>C MANE Select | ENSP00000270162.6:p.Gln664His | |
ENST00000270162.6:c.1992G>C | ENSP00000270162.6:p.Gln664His | |
NM_173354.3:c.1992G>C | NP_775490.2:p.Gln664His | |
XM_011529474.1:c.1845G>C | XP_011527776.1:p.Gln615His | |
NM_173354.4:c.1992G>C | NP_775490.2:p.Gln664His | |
XM_011529474.2:c.1845G>C | XP_011527776.1:p.Gln615His | |
NM_173354.5:c.1992G>C MANE Select | NP_775490.2:p.Gln664His |