Linked Data
ClinVar Variation Id:
653194
dbSNP Id:
rs761440964
ExAC:
11:68675749 G / T
gnomAD v2:
11-68675749-G-T
gnomAD v3:
11-68908281-G-T
gnomAD v4:
11-68908281-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68908281G>T , CM000673.2:g.68908281G>T | GRCh38 |
| NC_000011.9:g.68675749G>T , CM000673.1:g.68675749G>T | GRCh37 |
| NC_000011.8:g.68432325G>T | NCBI36 |
| NG_007976.1:g.9431G>T , LRG_250:g.9431G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.393G>T MANE Select | ENSP00000255078.4:p.Glu131Asp | |
| ENST00000539224.2:c.356G>T | ||
| ENST00000674583.1:c.356G>T | ||
| ENST00000674597.1:c.204G>T | ||
| ENST00000674955.1:c.393G>T | ENSP00000502463.1:p.Glu131Asp | |
| ENST00000675142.1:n.356G>T | ||
| ENST00000675469.1:c.269G>T | ||
| ENST00000675615.1:c.393G>T | ENSP00000502413.1:p.Glu131Asp | |
| ENST00000675674.1:n.356G>T | ||
| ENST00000675873.1:c.356G>T | ||
| ENST00000676173.1:n.437G>T | ||
| ENST00000676228.1:c.393G>T | ENSP00000502375.1:p.Glu131Asp | |
| ENST00000255078.7:c.393G>T | ENSP00000255078.3:p.Glu131Asp | |
| ENST00000539224.1:c.393G>T | ENSP00000440465.1:p.Glu131Asp | |
| ENST00000544541.1:c.*133G>T | ENSP00000443343.1:n.*133G>T | |
| NM_002180.2:c.393G>T , LRG_250t1:c.393G>T | NP_002171.2:p.Glu131Asp | |
| XM_005273974.2:c.-619G>T | XP_005274031.1:n.-619G>T | |
| XM_005273976.1:c.393G>T | XP_005274033.1:p.Glu131Asp | |
| XR_247198.1:n.495G>T | ||
| XR_949903.1:n.495G>T | ||
| XM_005273976.2:c.393G>T | XP_005274033.1:p.Glu131Asp | |
| XM_017017669.2:c.-521G>T | XP_016873158.1:n.-521G>T | |
| XM_017017671.2:c.393G>T | XP_016873160.1:p.Glu131Asp | |
| XR_949903.3:n.491G>T | ||
| NM_002180.3:c.393G>T MANE Select | NP_002171.2:p.Glu131Asp |