HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218813948A>C , CM000664.2:g.218813948A>C | GRCh38 |
NC_000002.11:g.219678671A>C , CM000664.1:g.219678671A>C | GRCh37 |
NC_000002.10:g.219386915A>C | NCBI36 |
NG_007959.1:g.37200A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258415.9:c.1018-73A>C MANE Select | ENSP00000258415.4:n.1018-73A>C | |
ENST00000258415.8:c.1018-73A>C | ENSP00000258415.4:n.1018-73A>C | |
ENST00000445971.1:c.*479-73A>C | ENSP00000404945.1:n.*479-73A>C | |
ENST00000466602.1:n.1140-73A>C | ||
ENST00000494263.5:n.1452-73A>C | ||
NM_000784.3:c.1018-73A>C | NP_000775.1:n.1018-73A>C | |
XM_017003488.2:c.598-73A>C | XP_016858977.1:n.598-73A>C | |
NM_000784.4:c.1018-73A>C MANE Select | NP_000775.1:n.1018-73A>C |