HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269147C>G , CM000668.2:g.31269147C>G | GRCh38 |
NC_000006.11:g.31236924C>G , CM000668.1:g.31236924C>G | GRCh37 |
NC_000006.10:g.31344903C>G | NCBI36 |
NG_029422.2:g.7985G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.*22G>C MANE Select | ENSP00000365402.5:n.*22G>C | |
ENST00000376228.9:c.*22G>C | ENSP00000365402.5:n.*22G>C | |
ENST00000376237.8:c.*710G>C | ENSP00000365412.4:n.*710G>C | |
ENST00000383329.7:c.*22G>C | ENSP00000372819.3:n.*22G>C | |
ENST00000466892.5:n.356G>C | ||
ENST00000470363.5:n.881G>C | ||
ENST00000487245.5:n.1482G>C | ||
NM_002117.5:c.*22G>C | NP_002108.4:n.*22G>C | |
NM_002117.6:c.*22G>C MANE Select | NP_002108.4:n.*22G>C |