HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713867T>C , CM000681.2:g.6713867T>C | GRCh38 |
NC_000019.9:g.6713878T>C , CM000681.1:g.6713878T>C | GRCh37 |
NC_000019.8:g.6664878T>C | NCBI36 |
NG_009557.1:g.11785A>G , LRG_27:g.11785A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.650+125A>G | ENSP00000512083.1:n.650+125A>G | |
ENST00000245907.11:c.773+125A>G MANE Select | ENSP00000245907.4:n.773+125A>G | |
ENST00000245907.10:c.773+125A>G | ENSP00000245907.4:n.773+125A>G | |
ENST00000595577.1:n.277+125A>G | ||
NM_000064.3:c.773+125A>G | NP_000055.2:n.773+125A>G | |
NM_000064.4:c.773+125A>G MANE Select | NP_000055.2:n.773+125A>G |