Linked Data
ClinVar Variation Id:
305846
dbSNP Id:
rs61731907
ExAC:
11:68701266 C / A
gnomAD v2:
11-68701266-C-A
gnomAD v3:
11-68933798-C-A
gnomAD v4:
11-68933798-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933798C>A , CM000673.2:g.68933798C>A | GRCh38 |
| NC_000011.9:g.68701266C>A , CM000673.1:g.68701266C>A | GRCh37 |
| NC_000011.8:g.68457842C>A | NCBI36 |
| NG_007976.1:g.34948C>A , LRG_250:g.34948C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1422C>A MANE Select | ENSP00000255078.4:p.Asp474Glu | |
| ENST00000674955.1:c.*139C>A | ENSP00000502463.1:n.*139C>A | |
| ENST00000675118.1:c.910C>A | ||
| ENST00000675205.1:n.183+317C>A | ||
| ENST00000675615.1:c.1422C>A | ENSP00000502413.1:p.Asp474Glu | |
| ENST00000675648.1:n.797C>A | ||
| ENST00000675997.1:n.113-666C>A | ||
| ENST00000676173.1:n.2167C>A | ||
| ENST00000676228.1:c.*745C>A | ENSP00000502375.1:n.*745C>A | |
| ENST00000255078.7:c.1422C>A | ENSP00000255078.3:p.Asp474Glu | |
| ENST00000537458.5:n.539C>A | ||
| ENST00000539064.5:n.1181C>A | ||
| ENST00000541229.5:n.117C>A | ||
| ENST00000543739.5:n.539C>A | ||
| NM_002180.2:c.1422C>A , LRG_250t1:c.1422C>A | NP_002171.2:p.Asp474Glu | |
| XM_005273974.2:c.411C>A | XP_005274031.1:p.Asp137Glu | |
| XM_005273975.2:c.294C>A | XP_005274032.1:p.Asp98Glu | |
| XM_011544994.1:c.189C>A | XP_011543296.1:p.Asp63Glu | |
| XR_949903.1:n.1524C>A | ||
| XM_005273975.3:c.294C>A | XP_005274032.1:p.Asp98Glu | |
| XM_017017669.2:c.411C>A | XP_016873158.1:p.Asp137Glu | |
| XM_017017670.2:c.411C>A | XP_016873159.1:p.Asp137Glu | |
| XM_017017671.2:c.1422C>A | XP_016873160.1:p.Asp474Glu | |
| XR_949903.3:n.1520C>A | ||
| NM_002180.3:c.1422C>A MANE Select | NP_002171.2:p.Asp474Glu |