HGVS | Genome Assembly |
---|---|
NC_000008.11:g.16168568C>G , CM000670.2:g.16168568C>G | GRCh38 |
NC_000008.10:g.16026077C>G , CM000670.1:g.16026077C>G | GRCh37 |
NC_000008.9:g.16070448C>G | NCBI36 |
NG_012102.1:g.29224G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262101.10:c.520G>C MANE Select | ENSP00000262101.5:p.Asp174His | |
ENST00000262101.9:c.520G>C | ENSP00000262101.5:p.Asp174His | |
ENST00000350896.3:c.520G>C | ENSP00000262100.3:p.Asp174His | |
ENST00000355282.6:c.520G>C | ENSP00000347430.2:p.Asp174His | |
ENST00000381998.8:c.520G>C | ENSP00000371428.4:p.Asp174His | |
ENST00000445506.6:c.574G>C | ENSP00000405453.2:p.Asp192His | |
ENST00000519060.6:c.104-4317G>C | ENSP00000428865.1:n.104-4317G>C | |
NM_002445.3:c.520G>C | NP_002436.1:p.Asp174His | |
NM_138715.2:c.520G>C | NP_619729.1:p.Asp174His | |
NM_138716.2:c.520G>C | NP_619730.1:p.Asp174His | |
NM_001363744.1:c.574G>C | NP_001350673.1:p.Asp192His | |
XM_024447161.1:c.574G>C | XP_024302929.1:p.Asp192His | |
NM_138715.3:c.520G>C MANE Select | NP_619729.1:p.Asp174His | |
NM_002445.4:c.520G>C | NP_002436.1:p.Asp174His | |
NM_138716.3:c.520G>C | NP_619730.1:p.Asp174His |