HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74740930T>G , CM000685.2:g.74740930T>G | GRCh38 |
NC_000023.10:g.73960765T>G , CM000685.1:g.73960765T>G | GRCh37 |
NC_000023.9:g.73877490T>G | NCBI36 |
NG_027726.1:g.189523A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000055682.12:c.3627A>C MANE Select | ENSP00000055682.5:p.Glu1209Asp | |
ENST00000616200.2:c.3627A>C | ENSP00000480284.1:p.Glu1209Asp | |
ENST00000642681.2:c.3627A>C | ENSP00000495800.1:p.Glu1209Asp | |
ENST00000055682.10:c.3627A>C | ENSP00000055682.5:p.Glu1209Asp | |
ENST00000616200.1:c.3627A>C | ENSP00000480284.1:p.Glu1209Asp | |
NM_001008537.2:c.3627A>C | NP_001008537.1:p.Glu1209Asp | |
XM_011530935.1:c.3627A>C | XP_011529237.1:p.Glu1209Asp | |
NM_001008537.3:c.3627A>C MANE Select | NP_001008537.1:p.Glu1209Asp |