HGVS | Genome Assembly |
---|---|
NC_000006.12:g.151615757A>C , CM000668.2:g.151615757A>C | GRCh38 |
NC_000006.11:g.151936892A>C , CM000668.1:g.151936892A>C | GRCh37 |
NC_000006.10:g.151978585A>C | NCBI36 |
NG_021198.1:g.126718A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239374.8:c.1947+78A>C MANE Select | ENSP00000239374.6:n.1947+78A>C | |
ENST00000239374.7:c.1947+78A>C | ENSP00000239374.6:n.1947+78A>C | |
NM_025059.3:c.1947+78A>C | NP_079335.2:n.1947+78A>C | |
XM_011536147.1:c.1965+78A>C | XP_011534449.1:n.1965+78A>C | |
XM_011536148.1:c.1764+78A>C | XP_011534450.1:n.1764+78A>C | |
XM_011536147.2:c.1965+78A>C | XP_011534449.1:n.1965+78A>C | |
XM_011536148.2:c.1764+78A>C | XP_011534450.1:n.1764+78A>C | |
XR_001743865.1:n.129+964T>G | ||
NM_025059.4:c.1947+78A>C MANE Select | NP_079335.2:n.1947+78A>C |