HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271250T>G , CM000668.2:g.31271250T>G | GRCh38 |
NC_000006.11:g.31239027T>G , CM000668.1:g.31239027T>G | GRCh37 |
NC_000006.10:g.31347006T>G | NCBI36 |
NG_029422.2:g.5882A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.442A>C MANE Select | ENSP00000365402.5:p.Ile148Leu | |
ENST00000376228.9:c.442A>C | ENSP00000365402.5:p.Ile148Leu | |
ENST00000376237.8:c.*29A>C | ENSP00000365412.4:n.*29A>C | |
ENST00000383329.7:c.442A>C | ENSP00000372819.3:p.Ile148Leu | |
ENST00000415537.1:c.440A>C | ||
ENST00000484378.1:n.711A>C | ||
ENST00000487245.5:n.801A>C | ||
ENST00000495835.1:n.631A>C | ||
NM_002117.5:c.442A>C | NP_002108.4:p.Ile148Leu | |
NM_002117.6:c.442A>C MANE Select | NP_002108.4:p.Ile148Leu |