HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713678C>T , CM000681.2:g.6713678C>T | GRCh38 |
NC_000019.9:g.6713689C>T , CM000681.1:g.6713689C>T | GRCh37 |
NC_000019.8:g.6664689C>T | NCBI36 |
NG_009557.1:g.11974G>A , LRG_27:g.11974G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.651-169G>A | ENSP00000512083.1:n.651-169G>A | |
ENST00000245907.11:c.774-169G>A MANE Select | ENSP00000245907.4:n.774-169G>A | |
ENST00000245907.10:c.774-169G>A | ENSP00000245907.4:n.774-169G>A | |
ENST00000595577.1:n.278-169G>A | ||
ENST00000597442.5:n.23+88G>A | ||
NM_000064.3:c.774-169G>A | NP_000055.2:n.774-169G>A | |
NM_000064.4:c.774-169G>A MANE Select | NP_000055.2:n.774-169G>A |