HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270697T>G , CM000668.2:g.31270697T>G | GRCh38 |
NC_000006.11:g.31238474T>G , CM000668.1:g.31238474T>G | GRCh37 |
NC_000006.10:g.31346453T>G | NCBI36 |
NG_029422.2:g.6435A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.620-212A>C MANE Select | ENSP00000365402.5:n.620-212A>C | |
ENST00000376228.9:c.620-212A>C | ENSP00000365402.5:n.620-212A>C | |
ENST00000376237.8:c.*207-212A>C | ENSP00000365412.4:n.*207-212A>C | |
ENST00000383329.7:c.620-212A>C | ENSP00000372819.3:n.620-212A>C | |
ENST00000415537.1:c.618-212A>C | ||
ENST00000487245.5:n.979-212A>C | ||
ENST00000495835.1:n.809-212A>C | ||
NM_002117.5:c.620-212A>C | NP_002108.4:n.620-212A>C | |
NM_002117.6:c.620-212A>C MANE Select | NP_002108.4:n.620-212A>C |