HGVS | Genome Assembly |
---|---|
NC_000001.11:g.21560683C>G , CM000663.2:g.21560683C>G | GRCh38 |
NC_000001.10:g.21887176C>G , CM000663.1:g.21887176C>G | GRCh37 |
NC_000001.9:g.21759763C>G | NCBI36 |
NG_008940.1:g.56319C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374840.8:c.119C>G MANE Select | ENSP00000363973.3:p.Ala40Gly | |
ENST00000374832.5:c.119C>G | ENSP00000363965.1:p.Ala40Gly | |
ENST00000374840.7:c.119C>G | ENSP00000363973.3:p.Ala40Gly | |
ENST00000468526.1:n.179C>G | ||
ENST00000539907.5:c.4C>G | ENSP00000437674.1:p.Pro2Ala | |
ENST00000540617.5:c.-47C>G | ENSP00000442672.1:n.-47C>G | |
NM_000478.4:c.119C>G | NP_000469.3:p.Ala40Gly | |
NM_001127501.2:c.-47C>G | NP_001120973.2:n.-47C>G | |
NM_001177520.1:c.4C>G | NP_001170991.1:p.Pro2Ala | |
XM_005245818.1:c.119C>G | XP_005245875.1:p.Ala40Gly | |
XM_005245820.2:c.119C>G | XP_005245877.1:p.Ala40Gly | |
XM_006710546.1:c.119C>G | XP_006710609.1:p.Ala40Gly | |
NM_000478.5:c.119C>G | NP_000469.3:p.Ala40Gly | |
NM_001127501.3:c.-47C>G | NP_001120973.2:n.-47C>G | |
NM_001177520.2:c.4C>G | NP_001170991.1:p.Pro2Ala | |
XM_006710546.3:c.119C>G | XP_006710609.1:p.Ala40Gly | |
XM_017000903.1:c.4C>G | XP_016856392.1:p.Pro2Ala | |
NM_000478.6:c.119C>G MANE Select | NP_000469.3:p.Ala40Gly | |
NM_001127501.4:c.-47C>G | NP_001120973.2:n.-47C>G | |
NM_001177520.3:c.4C>G | NP_001170991.1:p.Pro2Ala | |
NM_001369803.2:c.119C>G | NP_001356732.1:p.Ala40Gly | |
NM_001369804.2:c.119C>G | NP_001356733.1:p.Ala40Gly | |
NM_001369805.2:c.119C>G | NP_001356734.1:p.Ala40Gly |