HGVS | Genome Assembly |
---|---|
NC_000005.10:g.174725041G>C , CM000667.2:g.174725041G>C | GRCh38 |
NC_000005.9:g.174152044G>C , CM000667.1:g.174152044G>C | GRCh37 |
NC_000005.8:g.174084650G>C | NCBI36 |
NG_008124.1:g.5470G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239243.7:c.379+3G>C MANE Select | ENSP00000239243.5:n.379+3G>C | |
ENST00000239243.6:c.379+3G>C | ENSP00000239243.5:n.379+3G>C | |
ENST00000507785.2:c.382G>C | ENSP00000427425.1:p.Glu128Gln | |
NM_002449.4:c.379+3G>C | NP_002440.2:n.379+3G>C | |
NM_001363626.1:c.382G>C | NP_001350555.1:p.Glu128Gln | |
NM_002449.5:c.379+3G>C MANE Select | NP_002440.2:n.379+3G>C | |
NM_001363626.2:c.382G>C | NP_001350555.1:p.Glu128Gln |