HGVS | Genome Assembly |
---|---|
NC_000002.12:g.127428718G>C , CM000664.2:g.127428718G>C | GRCh38 |
NC_000002.11:g.128186294G>C , CM000664.1:g.128186294G>C | GRCh37 |
NC_000002.10:g.127902764G>C | NCBI36 |
NG_016323.1:g.15299G>C , LRG_599:g.15299G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000234071.8:c.1158G>C MANE Select | ENSP00000234071.4:p.Leu386= | |
ENST00000234071.7:c.1158G>C | ENSP00000234071.3:p.Leu386= | |
ENST00000402125.2:c.482G>C | ||
ENST00000409048.1:c.1260G>C | ENSP00000386679.1:p.Leu420= | |
NM_000312.3:c.1158G>C , LRG_599t1:c.1158G>C | NP_000303.1:p.Leu386= | |
XM_005263715.3:c.1341G>C | XP_005263772.1:p.Leu447= | |
XM_005263716.3:c.1323G>C | XP_005263773.1:p.Leu441= | |
XM_005263717.3:c.1221G>C | XP_005263774.1:p.Leu407= | |
XR_923313.1:n.1332-454C>G | ||
XM_005263717.4:c.1221G>C | XP_005263774.1:p.Leu407= | |
XM_017004505.1:c.1401G>C | XP_016859994.1:p.Leu467= | |
XM_024453002.1:c.1503G>C | XP_024308770.1:p.Leu501= | |
XM_024453003.1:c.1443G>C | XP_024308771.1:p.Leu481= | |
XM_024453004.1:c.1341G>C | XP_024308772.1:p.Leu447= | |
XM_024453005.1:c.1323G>C | XP_024308773.1:p.Leu441= | |
XM_024453006.1:c.1260G>C | XP_024308774.1:p.Leu420= | |
XR_001739705.1:n.3607-454C>G | ||
XR_923313.2:n.4043-454C>G | ||
NM_000312.4:c.1158G>C MANE Select | NP_000303.1:p.Leu386= | |
NM_001375602.1:c.1341G>C | NP_001362531.1:p.Leu447= | |
NM_001375603.1:c.1323G>C | NP_001362532.1:p.Leu441= | |
NM_001375604.1:c.1221G>C | NP_001362533.1:p.Leu407= | |
NM_001375605.1:c.1260G>C | NP_001362534.1:p.Leu420= | |
NM_001375606.1:c.1326G>C | NP_001362535.1:p.Leu442= | |
NM_001375607.1:c.1344G>C | NP_001362536.1:p.Leu448= | |
NM_001375608.1:c.1101G>C | NP_001362537.1:p.Leu367= | |
NM_001375609.1:c.1134G>C | NP_001362538.1:p.Leu378= | |
NM_001375610.1:c.1152G>C | NP_001362539.1:p.Leu384= | |
NM_001375611.1:c.1158G>C | NP_001362540.1:p.Leu386= | |
NM_001375613.1:c.1158G>C | NP_001362542.1:p.Leu386= |