HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713103G>A , CM000681.2:g.6713103G>A | GRCh38 |
NC_000019.9:g.6713114G>A , CM000681.1:g.6713114G>A | GRCh37 |
NC_000019.8:g.6664114G>A | NCBI36 |
NG_009557.1:g.12549C>T , LRG_27:g.12549C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.880+86C>T | ENSP00000512083.1:n.880+86C>T | |
ENST00000695654.1:c.127+86C>T | ENSP00000512085.1:n.127+86C>T | |
ENST00000695692.1:n.327+86C>T | ||
ENST00000245907.11:c.1003+86C>T MANE Select | ENSP00000245907.4:n.1003+86C>T | |
ENST00000245907.10:c.1003+86C>T | ENSP00000245907.4:n.1003+86C>T | |
ENST00000594270.5:n.127+86C>T | ||
ENST00000595577.1:n.507+86C>T | ||
ENST00000597442.5:n.253+86C>T | ||
NM_000064.3:c.1003+86C>T | NP_000055.2:n.1003+86C>T | |
NM_000064.4:c.1003+86C>T MANE Select | NP_000055.2:n.1003+86C>T |