HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137200021G>A , CM000671.2:g.137200021G>A | GRCh38 |
NC_000009.11:g.140094473G>A , CM000671.1:g.140094473G>A | GRCh37 |
NC_000009.10:g.139214294G>A | NCBI36 |
NG_027801.1:g.5691C>T | |
NG_027801.2:g.9173C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409012.6:c.691C>T MANE Select | ENSP00000387100.4:p.Arg231Trp | |
ENST00000333046.8:c.85C>T | ENSP00000327617.4:p.Arg29Trp | |
ENST00000409012.4:c.691C>T | ENSP00000387100.4:p.Arg231Trp | |
ENST00000541945.1:n.90+4083C>T | ||
NM_001128228.2:c.691C>T | NP_001121700.2:p.Arg231Trp | |
NM_001128228.3:c.691C>T MANE Select | NP_001121700.2:p.Arg231Trp |