HGVS | Genome Assembly |
---|---|
NC_000015.10:g.50561175T>C , CM000677.2:g.50561175T>C | GRCh38 |
NC_000015.9:g.50853372T>C , CM000677.1:g.50853372T>C | GRCh37 |
NC_000015.8:g.48640664T>C | NCBI36 |
NG_021363.1:g.130641A>G | |
NG_021363.2:g.130641A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646667.1:c.*503A>G MANE Select | ENSP00000495860.1:n.*503A>G | |
ENST00000313478.11:c.*503A>G | ENSP00000320239.7:n.*503A>G | |
ENST00000560955.5:c.*503A>G | ENSP00000453277.1:n.*503A>G | |
ENST00000561267.5:c.606-8478A>G | ||
NM_001301212.1:c.*503A>G | NP_001288141.1:n.*503A>G | |
NM_017672.5:c.*503A>G | NP_060142.3:n.*503A>G | |
XM_005254486.2:c.*503A>G | XP_005254543.1:n.*503A>G | |
XM_005254487.2:c.*503A>G | XP_005254544.1:n.*503A>G | |
NR_149152.1:n.6333A>G | ||
NR_149153.1:n.6256A>G | ||
NR_149154.1:n.6183A>G | ||
XM_005254486.4:c.*503A>G | XP_005254543.1:n.*503A>G | |
XM_017022350.1:c.*503A>G | XP_016877839.1:n.*503A>G | |
XM_017022351.1:c.*503A>G | XP_016877840.1:n.*503A>G | |
XM_017022352.1:c.*503A>G | XP_016877841.1:n.*503A>G | |
XM_017022353.2:c.*503A>G | XP_016877842.1:n.*503A>G | |
XM_017022354.1:c.*503A>G | XP_016877843.1:n.*503A>G | |
XM_017022355.1:c.*503A>G | XP_016877844.1:n.*503A>G | |
XR_001751325.1:n.6283A>G | ||
XR_001751326.2:n.6316A>G | ||
XR_001751328.2:n.6313A>G | ||
NM_017672.6:c.*503A>G MANE Select | NP_060142.3:n.*503A>G | |
NM_001301212.2:c.*503A>G | NP_001288141.1:n.*503A>G | |
NR_149152.2:n.6315A>G | ||
NR_149153.2:n.6238A>G | ||
NR_149154.2:n.6165A>G |