HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1416012C>A , CM000667.2:g.1416012C>A | GRCh38 |
NC_000005.9:g.1416127C>A , CM000667.1:g.1416127C>A | GRCh37 |
NC_000005.8:g.1469127C>A | NCBI36 |
NG_015885.1:g.34417G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1031+86G>T MANE Select | ENSP00000270349.9:n.1031+86G>T | |
ENST00000270349.11:c.1031+86G>T | ENSP00000270349.9:n.1031+86G>T | |
ENST00000511750.1:n.481+86G>T | ||
NM_001044.4:c.1031+86G>T | NP_001035.1:n.1031+86G>T | |
NM_001044.5:c.1031+86G>T MANE Select | NP_001035.1:n.1031+86G>T |