HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7530200C>A , CM000681.2:g.7530200C>A | GRCh38 |
NC_000019.9:g.7595086C>A , CM000681.1:g.7595086C>A | GRCh37 |
NC_000019.8:g.7501086C>A | NCBI36 |
NG_013374.1:g.1049C>A | |
NG_015806.1:g.12591C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.1360-86C>A MANE Select | ENSP00000264079.5:n.1360-86C>A | |
ENST00000264079.10:c.1360-86C>A | ENSP00000264079.5:n.1360-86C>A | |
ENST00000394321.9:n.1675-86C>A | ||
ENST00000594692.1:n.356-86C>A | ||
ENST00000595860.5:n.543-86C>A | ||
ENST00000599334.1:c.237-235C>A | ||
NM_020533.2:c.1360-86C>A | NP_065394.1:n.1360-86C>A | |
NM_020533.3:c.1360-86C>A MANE Select | NP_065394.1:n.1360-86C>A |