HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271129C>G , CM000668.2:g.31271129C>G | GRCh38 |
NC_000006.11:g.31238906C>G , CM000668.1:g.31238906C>G | GRCh37 |
NC_000006.10:g.31346885C>G | NCBI36 |
NG_029422.2:g.6003G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.563G>C MANE Select | ENSP00000365402.5:p.Cys188Ser | |
ENST00000376228.9:c.563G>C | ENSP00000365402.5:p.Cys188Ser | |
ENST00000376237.8:c.*150G>C | ENSP00000365412.4:n.*150G>C | |
ENST00000383329.7:c.563G>C | ENSP00000372819.3:p.Cys188Ser | |
ENST00000415537.1:c.561G>C | ||
ENST00000484378.1:n.832G>C | ||
ENST00000487245.5:n.922G>C | ||
ENST00000495835.1:n.752G>C | ||
NM_002117.5:c.563G>C | NP_002108.4:p.Cys188Ser | |
NM_002117.6:c.563G>C MANE Select | NP_002108.4:p.Cys188Ser |