HGVS | Genome Assembly |
---|---|
NC_000013.11:g.99544698G>T , CM000675.2:g.99544698G>T | GRCh38 |
NC_000013.10:g.100196952G>T , CM000675.1:g.100196952G>T | GRCh37 |
NC_000013.9:g.98994953G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376387.5:c.1150+703G>T MANE Select | ENSP00000365567.3:n.1150+703G>T | |
ENST00000642475.1:c.1150+703G>T | ENSP00000493515.1:n.1150+703G>T | |
ENST00000376387.4:c.1150+703G>T | ENSP00000365567.3:n.1150+703G>T | |
NM_004800.2:c.1150+703G>T | NP_004791.1:n.1150+703G>T | |
NM_004800.3:c.1150+703G>T MANE Select | NP_004791.1:n.1150+703G>T |