HGVS | Genome Assembly |
---|---|
NC_000006.12:g.38682956C>A , CM000668.2:g.38682956C>A | GRCh38 |
NC_000006.11:g.38650732C>A , CM000668.1:g.38650732C>A | GRCh37 |
NC_000006.10:g.38758710C>A | NCBI36 |
NG_012074.1:g.25221G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373365.5:c.309-81G>T MANE Select | ENSP00000362463.3:n.309-81G>T | |
ENST00000373365.4:c.309-81G>T | ENSP00000362463.3:n.309-81G>T | |
ENST00000470973.1:n.260G>T | ||
NM_006708.2:c.309-81G>T | NP_006699.2:n.309-81G>T | |
NM_006708.3:c.309-81G>T MANE Select | NP_006699.2:n.309-81G>T |