HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218814207T>C , CM000664.2:g.218814207T>C | GRCh38 |
NC_000002.11:g.219678930T>C , CM000664.1:g.219678930T>C | GRCh37 |
NC_000002.10:g.219387174T>C | NCBI36 |
NG_007959.1:g.37459T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258415.9:c.1184+20T>C MANE Select | ENSP00000258415.4:n.1184+20T>C | |
ENST00000258415.8:c.1184+20T>C | ENSP00000258415.4:n.1184+20T>C | |
ENST00000494263.5:n.1638T>C | ||
NM_000784.3:c.1184+20T>C | NP_000775.1:n.1184+20T>C | |
XM_017003488.2:c.764+20T>C | XP_016858977.1:n.764+20T>C | |
NM_000784.4:c.1184+20T>C MANE Select | NP_000775.1:n.1184+20T>C |