HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137192282C>A , CM000671.2:g.137192282C>A | GRCh38 |
NC_000009.11:g.140086734C>A , CM000671.1:g.140086734C>A | GRCh37 |
NC_000009.10:g.139206555C>A | NCBI36 |
NG_027801.1:g.13430G>T | |
NG_027801.2:g.16912G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409012.6:c.2050G>T MANE Select | ENSP00000387100.4:p.Glu684Ter | |
ENST00000333046.8:c.1444G>T | ENSP00000327617.4:p.Glu482Ter | |
ENST00000409012.4:c.2050G>T | ENSP00000387100.4:p.Glu684Ter | |
ENST00000477345.1:n.2771G>T | ||
NM_001128228.2:c.2050G>T | NP_001121700.2:p.Glu684Ter | |
NM_001128228.3:c.2050G>T MANE Select | NP_001121700.2:p.Glu684Ter |