HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268950T>C , CM000668.2:g.31268950T>C | GRCh38 |
NC_000006.11:g.31236727T>C , CM000668.1:g.31236727T>C | GRCh37 |
NC_000006.10:g.31344706T>C | NCBI36 |
NG_029422.2:g.8182A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.*219A>G MANE Select | ENSP00000365402.5:n.*219A>G | |
ENST00000376228.9:c.*219A>G | ENSP00000365402.5:n.*219A>G | |
ENST00000376237.8:c.*907A>G | ENSP00000365412.4:n.*907A>G | |
ENST00000383329.7:c.*219A>G | ENSP00000372819.3:n.*219A>G | |
ENST00000466892.5:n.553A>G | ||
ENST00000470363.5:n.1078A>G | ||
ENST00000487245.5:n.1679A>G | ||
NM_002117.5:c.*219A>G | NP_002108.4:n.*219A>G | |
NM_002117.6:c.*219A>G MANE Select | NP_002108.4:n.*219A>G |