HGVS | Genome Assembly |
---|---|
NC_000012.12:g.106463506G>C , CM000674.2:g.106463506G>C | GRCh38 |
NC_000012.11:g.106857284G>C , CM000674.1:g.106857284G>C | GRCh37 |
NC_000012.10:g.105381414G>C | NCBI36 |
NG_031837.1:g.110849G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000228347.9:c.2599G>C MANE Select | ENSP00000228347.4:p.Glu867Gln | |
ENST00000228347.8:c.2599G>C | ENSP00000228347.4:p.Glu867Gln | |
ENST00000539066.5:c.2425G>C | ENSP00000445721.1:p.Glu809Gln | |
NM_001160708.1:c.2425G>C | NP_001154180.1:p.Glu809Gln | |
NM_018082.5:c.2599G>C | NP_060552.4:p.Glu867Gln | |
XM_017019621.2:c.2599G>C | XP_016875110.1:p.Glu867Gln | |
NM_018082.6:c.2599G>C MANE Select | NP_060552.4:p.Glu867Gln | |
NM_001160708.2:c.2425G>C | NP_001154180.1:p.Glu809Gln |