Linked Data
ClinVar Variation Id:
305834
dbSNP Id:
rs748899869
ExAC:
11:68679056 G / T
gnomAD v2:
11-68679056-G-T
gnomAD v3:
11-68911588-G-T
gnomAD v4:
11-68911588-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68911588G>T , CM000673.2:g.68911588G>T | GRCh38 |
| NC_000011.9:g.68679056G>T , CM000673.1:g.68679056G>T | GRCh37 |
| NC_000011.8:g.68435632G>T | NCBI36 |
| NG_007976.1:g.12738G>T , LRG_250:g.12738G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.696G>T MANE Select | ENSP00000255078.4:p.Val232= | |
| ENST00000539224.2:c.659G>T | ||
| ENST00000674583.1:c.659G>T | ||
| ENST00000674955.1:c.696G>T | ENSP00000502463.1:p.Val232= | |
| ENST00000675118.1:c.43G>T | ||
| ENST00000675142.1:n.659G>T | ||
| ENST00000675615.1:c.696G>T | ENSP00000502413.1:p.Val232= | |
| ENST00000675674.1:n.659G>T | ||
| ENST00000675683.1:c.98+2957G>T | ||
| ENST00000675873.1:c.659G>T | ||
| ENST00000676173.1:n.740G>T | ||
| ENST00000676228.1:c.*19G>T | ENSP00000502375.1:n.*19G>T | |
| ENST00000255078.7:c.696G>T | ENSP00000255078.3:p.Val232= | |
| ENST00000539224.1:c.*19G>T | ENSP00000440465.1:n.*19G>T | |
| NM_002180.2:c.696G>T , LRG_250t1:c.696G>T | NP_002171.2:p.Val232= | |
| XM_005273974.2:c.-316G>T | XP_005274031.1:n.-316G>T | |
| XM_005273976.1:c.696G>T | XP_005274033.1:p.Val232= | |
| XR_247198.1:n.798G>T | ||
| XR_949903.1:n.798G>T | ||
| XM_005273976.2:c.696G>T | XP_005274033.1:p.Val232= | |
| XM_017017669.2:c.-316G>T | XP_016873158.1:n.-316G>T | |
| XM_017017671.2:c.696G>T | XP_016873160.1:p.Val232= | |
| XR_949903.3:n.794G>T | ||
| NM_002180.3:c.696G>T MANE Select | NP_002171.2:p.Val232= |