Linked Data
ClinVar Variation Id:
658936
ClinVar RCV Id:
RCV000815859
dbSNP Id:
rs1594417834
gnomAD v4:
11-68908145-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68908145G>A , CM000673.2:g.68908145G>A | GRCh38 |
| NC_000011.9:g.68675613G>A , CM000673.1:g.68675613G>A | GRCh37 |
| NC_000011.8:g.68432189G>A | NCBI36 |
| NG_007976.1:g.9295G>A , LRG_250:g.9295G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.257G>A MANE Select | ENSP00000255078.4:p.Gly86Asp | |
| ENST00000539224.2:c.220G>A | ||
| ENST00000674583.1:c.220G>A | ||
| ENST00000674597.1:c.68G>A | ||
| ENST00000674955.1:c.257G>A | ENSP00000502463.1:p.Gly86Asp | |
| ENST00000675142.1:n.220G>A | ||
| ENST00000675469.1:c.133G>A | ||
| ENST00000675615.1:c.257G>A | ENSP00000502413.1:p.Gly86Asp | |
| ENST00000675674.1:n.220G>A | ||
| ENST00000675873.1:c.220G>A | ||
| ENST00000676173.1:n.301G>A | ||
| ENST00000676228.1:c.257G>A | ENSP00000502375.1:p.Gly86Asp | |
| ENST00000255078.7:c.257G>A | ENSP00000255078.3:p.Gly86Asp | |
| ENST00000539224.1:c.257G>A | ENSP00000440465.1:p.Gly86Asp | |
| ENST00000544541.1:c.87G>A | ENSP00000443343.1:p.Arg29= | |
| ENST00000545146.1:c.*127G>A | ENSP00000456366.1:n.*127G>A | |
| NM_002180.2:c.257G>A , LRG_250t1:c.257G>A | NP_002171.2:p.Gly86Asp | |
| XM_005273974.2:c.-755G>A | XP_005274031.1:n.-755G>A | |
| XM_005273976.1:c.257G>A | XP_005274033.1:p.Gly86Asp | |
| XR_247198.1:n.359G>A | ||
| XR_949903.1:n.359G>A | ||
| XM_005273976.2:c.257G>A | XP_005274033.1:p.Gly86Asp | |
| XM_017017669.2:c.-657G>A | XP_016873158.1:n.-657G>A | |
| XM_017017671.2:c.257G>A | XP_016873160.1:p.Gly86Asp | |
| XR_949903.3:n.355G>A | ||
| NM_002180.3:c.257G>A MANE Select | NP_002171.2:p.Gly86Asp |