HGVS | Genome Assembly |
---|---|
NC_000007.14:g.142957937A>G , CM000669.2:g.142957937A>G | GRCh38 |
NC_000007.13:g.142655024A>G , CM000669.1:g.142655024A>G | GRCh37 |
NC_000007.12:g.142365146A>G | NCBI36 |
NG_007492.1:g.9480T>C | |
NG_007492.2:g.9480T>C | |
NG_007492.3:g.9480T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355265.7:c.562T>C MANE Select | ENSP00000347409.2:p.Leu188= | |
ENST00000467543.6:c.*414T>C | ENSP00000420011.2:n.*414T>C | |
ENST00000355265.6:c.562T>C | ENSP00000347409.2:p.Leu188= | |
ENST00000467543.5:c.505T>C | ENSP00000420011.1:p.Leu169= | |
ENST00000476829.5:c.525+367T>C | ENSP00000419889.1:n.525+367T>C | |
ENST00000479768.6:n.680T>C | ||
ENST00000494148.1:n.161T>C | ||
NM_000420.2:c.562T>C | NP_000411.1:p.Leu188= | |
XM_005249993.2:c.598T>C | XP_005250050.1:p.Leu200= | |
NM_000420.3:c.562T>C MANE Select | NP_000411.1:p.Leu188= |