Linked Data
ClinVar Variation Id:
2932900
ClinVar RCV Id:
RCV003798066
gnomAD v4:
11-68917819-G-A
MyVariant Identifiers:
chr11:g.68685287G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68917819G>A , CM000673.2:g.68917819G>A | GRCh38 |
| NC_000011.9:g.68685287G>A , CM000673.1:g.68685287G>A | GRCh37 |
| NC_000011.8:g.68441863G>A | NCBI36 |
| NG_007976.1:g.18969G>A , LRG_250:g.18969G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.996G>A MANE Select | ENSP00000255078.4:p.Glu332= | |
| ENST00000674745.1:c.84G>A | ENSP00000502738.1:p.Glu28= | |
| ENST00000674775.1:n.84G>A | ||
| ENST00000674955.1:c.996G>A | ENSP00000502463.1:p.Glu332= | |
| ENST00000675118.1:c.484G>A | ||
| ENST00000675119.1:c.423G>A | ENSP00000501861.1:n.423G>A | |
| ENST00000675305.1:c.316G>A | ENSP00000502365.1:n.316G>A | |
| ENST00000675464.1:c.279G>A | ENSP00000502650.1:p.Glu93= | |
| ENST00000675493.1:n.84G>A | ||
| ENST00000675615.1:c.996G>A | ENSP00000502413.1:p.Glu332= | |
| ENST00000675648.1:n.371G>A | ||
| ENST00000675683.1:c.383G>A | ||
| ENST00000675684.1:c.84G>A | ENSP00000502192.1:p.Glu28= | |
| ENST00000676173.1:n.1040G>A | ||
| ENST00000676228.1:c.*319G>A | ENSP00000502375.1:n.*319G>A | |
| ENST00000255078.7:c.996G>A | ENSP00000255078.3:p.Glu332= | |
| NM_002180.2:c.996G>A , LRG_250t1:c.996G>A | NP_002171.2:p.Glu332= | |
| XM_005273974.2:c.-16G>A | XP_005274031.1:n.-16G>A | |
| XM_005273976.1:c.996G>A | XP_005274033.1:p.Glu332= | |
| XR_247198.1:n.1098G>A | ||
| XR_949903.1:n.1098G>A | ||
| XM_005273976.2:c.996G>A | XP_005274033.1:p.Glu332= | |
| XM_017017669.2:c.-16G>A | XP_016873158.1:n.-16G>A | |
| XM_017017670.2:c.-16G>A | XP_016873159.1:n.-16G>A | |
| XM_017017671.2:c.996G>A | XP_016873160.1:p.Glu332= | |
| XR_949903.3:n.1094G>A | ||
| NM_002180.3:c.996G>A MANE Select | NP_002171.2:p.Glu332= |