HGVS | Genome Assembly |
---|---|
NC_000002.12:g.127428724G>A , CM000664.2:g.127428724G>A | GRCh38 |
NC_000002.11:g.128186300G>A , CM000664.1:g.128186300G>A | GRCh37 |
NC_000002.10:g.127902770G>A | NCBI36 |
NG_016323.1:g.15305G>A , LRG_599:g.15305G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000234071.8:c.1164G>A MANE Select | ENSP00000234071.4:p.Ala388= | |
ENST00000234071.7:c.1164G>A | ENSP00000234071.3:p.Ala388= | |
ENST00000402125.2:c.488G>A | ||
ENST00000409048.1:c.1266G>A | ENSP00000386679.1:p.Ala422= | |
NM_000312.3:c.1164G>A , LRG_599t1:c.1164G>A | NP_000303.1:p.Ala388= | |
XM_005263715.3:c.1347G>A | XP_005263772.1:p.Ala449= | |
XM_005263716.3:c.1329G>A | XP_005263773.1:p.Ala443= | |
XM_005263717.3:c.1227G>A | XP_005263774.1:p.Ala409= | |
XR_923313.1:n.1332-460C>T | ||
XM_005263717.4:c.1227G>A | XP_005263774.1:p.Ala409= | |
XM_017004505.1:c.1407G>A | XP_016859994.1:p.Ala469= | |
XM_024453002.1:c.1509G>A | XP_024308770.1:p.Ala503= | |
XM_024453003.1:c.1449G>A | XP_024308771.1:p.Ala483= | |
XM_024453004.1:c.1347G>A | XP_024308772.1:p.Ala449= | |
XM_024453005.1:c.1329G>A | XP_024308773.1:p.Ala443= | |
XM_024453006.1:c.1266G>A | XP_024308774.1:p.Ala422= | |
XR_001739705.1:n.3607-460C>T | ||
XR_923313.2:n.4043-460C>T | ||
NM_000312.4:c.1164G>A MANE Select | NP_000303.1:p.Ala388= | |
NM_001375602.1:c.1347G>A | NP_001362531.1:p.Ala449= | |
NM_001375603.1:c.1329G>A | NP_001362532.1:p.Ala443= | |
NM_001375604.1:c.1227G>A | NP_001362533.1:p.Ala409= | |
NM_001375605.1:c.1266G>A | NP_001362534.1:p.Ala422= | |
NM_001375606.1:c.1332G>A | NP_001362535.1:p.Ala444= | |
NM_001375607.1:c.1350G>A | NP_001362536.1:p.Ala450= | |
NM_001375608.1:c.1107G>A | NP_001362537.1:p.Ala369= | |
NM_001375609.1:c.1140G>A | NP_001362538.1:p.Ala380= | |
NM_001375610.1:c.1158G>A | NP_001362539.1:p.Ala386= | |
NM_001375611.1:c.1164G>A | NP_001362540.1:p.Ala388= | |
NM_001375613.1:c.1164G>A | NP_001362542.1:p.Ala388= |