HGVS | Genome Assembly |
---|---|
NC_000001.11:g.40819462G>C , CM000663.2:g.40819462G>C | GRCh38 |
NC_000001.10:g.41285134G>C , CM000663.1:g.41285134G>C | GRCh37 |
NC_000001.9:g.41057721G>C | NCBI36 |
NG_008139.1:g.40451G>C | |
NG_008139.2:g.40451G>C | |
NG_008139.3:g.40676G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000347132.10:c.824G>C MANE Select | ENSP00000262916.6:p.Trp275Ser | |
ENST00000347132.9:c.824G>C | ENSP00000262916.6:p.Trp275Ser | |
ENST00000443478.3:c.510G>C | ||
ENST00000506017.1:n.143G>C | ||
ENST00000509682.6:c.824G>C | ENSP00000423756.2:p.Trp275Ser | |
NM_004700.3:c.824G>C | NP_004691.2:p.Trp275Ser | |
NM_172163.2:c.824G>C | NP_751895.1:p.Trp275Ser | |
XM_011542417.1:c.824G>C | XP_011540719.1:p.Trp275Ser | |
XM_011542418.1:c.824G>C | XP_011540720.1:p.Trp275Ser | |
XM_011542419.1:c.824G>C | XP_011540721.1:p.Trp275Ser | |
XM_011542420.1:c.824G>C | XP_011540722.1:p.Trp275Ser | |
XR_946798.1:n.830G>C | ||
XR_946799.1:n.830G>C | ||
XR_946800.1:n.830G>C | ||
XM_017002792.1:c.-194G>C | XP_016858281.1:n.-194G>C | |
NM_004700.4:c.824G>C MANE Select | NP_004691.2:p.Trp275Ser | |
NM_172163.3:c.824G>C | NP_751895.1:p.Trp275Ser |