HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202514907T>G , CM000664.2:g.202514907T>G | GRCh38 |
NC_000002.11:g.203379630T>G , CM000664.1:g.203379630T>G | GRCh37 |
NC_000002.10:g.203087875T>G | NCBI36 |
NG_009363.1:g.143581T>G , LRG_712:g.143581T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374580.10:c.549T>G MANE Select | ENSP00000363708.4:p.Leu183= | |
ENST00000638587.1:c.480T>G | ENSP00000491062.1:p.Leu160= | |
ENST00000374574.2:c.549T>G | ENSP00000363702.2:p.Leu183= | |
ENST00000374580.8:c.549T>G | ENSP00000363708.4:p.Leu183= | |
NM_001204.6:c.549T>G , LRG_712t1:c.549T>G | NP_001195.2:p.Leu183= | |
XM_011511687.1:c.549T>G | XP_011509989.1:p.Leu183= | |
XM_011511688.1:c.549T>G | XP_011509990.1:p.Leu183= | |
NM_001204.7:c.549T>G MANE Select | NP_001195.2:p.Leu183= |