HGVS | Genome Assembly |
---|---|
NC_000020.11:g.2594746C>A , CM000682.2:g.2594746C>A | GRCh38 |
NC_000020.10:g.2575392C>A , CM000682.1:g.2575392C>A | GRCh37 |
NC_000020.9:g.2523392C>A | NCBI36 |
NG_042834.1:g.63140C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358864.2:c.934-79C>A MANE Select | ENSP00000351732.1:n.934-79C>A | |
ENST00000644205.1:n.1093-79C>A | ||
ENST00000358864.1:c.934-79C>A | ENSP00000351732.1:n.934-79C>A | |
NM_080751.2:c.934-79C>A | NP_542789.2:n.934-79C>A | |
XM_005260660.2:c.1009-79C>A | XP_005260717.1:n.1009-79C>A | |
XM_005260660.4:c.1009-79C>A | XP_005260717.1:n.1009-79C>A | |
XR_001754152.1:n.1143-79C>A | ||
NM_080751.3:c.934-79C>A MANE Select | NP_542789.2:n.934-79C>A |