HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137199385T>C , CM000671.2:g.137199385T>C | GRCh38 |
NC_000009.11:g.140093837T>C , CM000671.1:g.140093837T>C | GRCh37 |
NC_000009.10:g.139213658T>C | NCBI36 |
NG_027801.1:g.6327A>G | |
NG_027801.2:g.9809A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000409012.6:c.1327A>G MANE Select | ENSP00000387100.4:p.Lys443Glu | |
ENST00000333046.8:c.721A>G | ENSP00000327617.4:p.Lys241Glu | |
ENST00000409012.4:c.1327A>G | ENSP00000387100.4:p.Lys443Glu | |
ENST00000541945.1:n.90+4719A>G | ||
NM_001128228.2:c.1327A>G | NP_001121700.2:p.Lys443Glu | |
NM_001128228.3:c.1327A>G MANE Select | NP_001121700.2:p.Lys443Glu |