HGVS | Genome Assembly |
---|---|
NC_000002.12:g.127429019C>A , CM000664.2:g.127429019C>A | GRCh38 |
NC_000002.11:g.128186595C>A , CM000664.1:g.128186595C>A | GRCh37 |
NC_000002.10:g.127903065C>A | NCBI36 |
NG_016323.1:g.15600C>A , LRG_599:g.15600C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000234071.8:c.*73C>A MANE Select | ENSP00000234071.4:n.*73C>A | |
ENST00000234071.7:c.*73C>A | ENSP00000234071.3:n.*73C>A | |
NM_000312.3:c.*73C>A , LRG_599t1:c.*73C>A | NP_000303.1:n.*73C>A | |
XM_005263715.3:c.*73C>A | XP_005263772.1:n.*73C>A | |
XM_005263716.3:c.*73C>A | XP_005263773.1:n.*73C>A | |
XM_005263717.3:c.*73C>A | XP_005263774.1:n.*73C>A | |
XR_923313.1:n.1332-755G>T | ||
XM_005263717.4:c.*73C>A | XP_005263774.1:n.*73C>A | |
XM_017004505.1:c.*73C>A | XP_016859994.1:n.*73C>A | |
XM_024453002.1:c.*73C>A | XP_024308770.1:n.*73C>A | |
XM_024453003.1:c.*73C>A | XP_024308771.1:n.*73C>A | |
XM_024453004.1:c.*73C>A | XP_024308772.1:n.*73C>A | |
XM_024453005.1:c.*73C>A | XP_024308773.1:n.*73C>A | |
XM_024453006.1:c.*73C>A | XP_024308774.1:n.*73C>A | |
XR_001739705.1:n.3607-755G>T | ||
XR_923313.2:n.4043-755G>T | ||
NM_000312.4:c.*73C>A MANE Select | NP_000303.1:n.*73C>A | |
NM_001375602.1:c.*73C>A | NP_001362531.1:n.*73C>A | |
NM_001375603.1:c.*73C>A | NP_001362532.1:n.*73C>A | |
NM_001375604.1:c.*73C>A | NP_001362533.1:n.*73C>A | |
NM_001375605.1:c.*73C>A | NP_001362534.1:n.*73C>A | |
NM_001375606.1:c.*73C>A | NP_001362535.1:n.*73C>A | |
NM_001375607.1:c.*73C>A | NP_001362536.1:n.*73C>A | |
NM_001375608.1:c.*73C>A | NP_001362537.1:n.*73C>A | |
NM_001375609.1:c.*73C>A | NP_001362538.1:n.*73C>A | |
NM_001375610.1:c.*73C>A | NP_001362539.1:n.*73C>A | |
NM_001375611.1:c.*73C>A | NP_001362540.1:n.*73C>A | |
NM_001375613.1:c.*73C>A | NP_001362542.1:n.*73C>A |