HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787374C>A , CM000681.2:g.18787374C>A | GRCh38 |
NC_000019.9:g.18898183C>A , CM000681.1:g.18898183C>A | GRCh37 |
NC_000019.8:g.18759183C>A | NCBI36 |
NG_007070.1:g.8932G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1135+117G>T MANE Select | ENSP00000222271.2:n.1135+117G>T | |
ENST00000222271.6:c.1135+117G>T | ENSP00000222271.2:n.1135+117G>T | |
ENST00000425807.1:c.976+117G>T | ENSP00000403792.1:n.976+117G>T | |
ENST00000542601.6:c.1036+117G>T | ENSP00000439156.2:n.1036+117G>T | |
NM_000095.2:c.1135+117G>T | NP_000086.2:n.1135+117G>T | |
NM_000095.3:c.1135+117G>T MANE Select | NP_000086.2:n.1135+117G>T |