HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571205G>C , CM000663.2:g.154571205G>C | GRCh38 |
NC_000001.10:g.154543681G>C , CM000663.1:g.154543681G>C | GRCh37 |
NC_000001.9:g.152810305G>C | NCBI36 |
NG_008027.1:g.8425G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.382G>C MANE Select | ENSP00000357461.3:p.Glu128Gln | |
ENST00000636034.1:c.382G>C | ENSP00000489703.1:p.Glu128Gln | |
ENST00000637900.1:c.388G>C | ENSP00000490474.1:p.Glu130Gln | |
ENST00000368476.3:c.382G>C | ENSP00000357461.3:p.Glu128Gln | |
NM_000748.2:c.382G>C | NP_000739.1:p.Glu128Gln | |
XM_017000180.2:c.-9-120G>C | XP_016855669.1:n.-9-120G>C | |
XR_001736952.2:n.634G>C | ||
NM_000748.3:c.382G>C MANE Select | NP_000739.1:p.Glu128Gln |