HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713649C>G , CM000681.2:g.6713649C>G | GRCh38 |
NC_000019.9:g.6713660C>G , CM000681.1:g.6713660C>G | GRCh37 |
NC_000019.8:g.6664660C>G | NCBI36 |
NG_009557.1:g.12003G>C , LRG_27:g.12003G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.651-140G>C | ENSP00000512083.1:n.651-140G>C | |
ENST00000245907.11:c.774-140G>C MANE Select | ENSP00000245907.4:n.774-140G>C | |
ENST00000245907.10:c.774-140G>C | ENSP00000245907.4:n.774-140G>C | |
ENST00000595577.1:n.278-140G>C | ||
ENST00000597442.5:n.23+117G>C | ||
NM_000064.3:c.774-140G>C | NP_000055.2:n.774-140G>C | |
NM_000064.4:c.774-140G>C MANE Select | NP_000055.2:n.774-140G>C |