HGVS | Genome Assembly |
---|---|
NC_000013.11:g.77918599C>T , CM000675.2:g.77918599C>T | GRCh38 |
NC_000013.10:g.78492734C>T , CM000675.1:g.78492734C>T | GRCh37 |
NC_000013.9:g.77390735C>T | NCBI36 |
NG_011630.2:g.61931G>A | |
NG_011630.3:g.61125G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000475537.2:c.-26G>A | ENSP00000487082.2:n.-26G>A | |
ENST00000643890.1:c.-26G>A | ENSP00000495815.1:n.-26G>A | |
ENST00000646605.1:c.-26G>A | ENSP00000494278.1:n.-26G>A | |
ENST00000646607.2:c.-26G>A MANE Select | ENSP00000493527.1:n.-26G>A | |
ENST00000646948.1:c.-26G>A | ENSP00000493895.1:n.-26G>A | |
ENST00000334286.7:c.-26G>A | ENSP00000335311.5:n.-26G>A | |
ENST00000377211.8:c.245G>A | ENSP00000366416.4:p.Arg82Gln | |
ENST00000475537.1:c.-26G>A | ENSP00000487082.1:n.-26G>A | |
ENST00000626030.1:c.-26G>A | ENSP00000486202.1:n.-26G>A | |
NM_000115.3:c.-26G>A | NP_000106.1:n.-26G>A | |
NM_001122659.2:c.-26G>A | NP_001116131.1:n.-26G>A | |
NM_001201397.1:c.245G>A | NP_001188326.1:p.Arg82Gln | |
NM_003991.3:c.-26G>A | NP_003982.1:n.-26G>A | |
XM_005266275.2:c.-26G>A | XP_005266332.2:n.-26G>A | |
XM_011534949.1:c.-26G>A | XP_011533251.1:n.-26G>A | |
NM_000115.4:c.-26G>A | NP_000106.1:n.-26G>A | |
NM_001122659.3:c.-26G>A MANE Select | NP_001116131.1:n.-26G>A | |
NM_000115.5:c.-26G>A | NP_000106.1:n.-26G>A | |
NM_003991.4:c.-26G>A | NP_003982.1:n.-26G>A |