Linked Data
ClinVar Variation Id:
305857
dbSNP Id:
rs372230504
ExAC:
11:68705635 G / A
gnomAD v2:
11-68705635-G-A
gnomAD v3:
11-68938167-G-A
gnomAD v4:
11-68938167-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68938167G>A , CM000673.2:g.68938167G>A | GRCh38 |
| NC_000011.9:g.68705635G>A , CM000673.1:g.68705635G>A | GRCh37 |
| NC_000011.8:g.68462211G>A | NCBI36 |
| NG_007976.1:g.39317G>A , LRG_250:g.39317G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2612-15G>A MANE Select | ENSP00000255078.4:n.2612-15G>A | |
| ENST00000674675.1:c.757-15G>A | ||
| ENST00000674878.1:c.717-15G>A | ||
| ENST00000675118.1:c.2100-15G>A | ||
| ENST00000675615.1:c.2611+1076G>A | ENSP00000502413.1:n.2611+1076G>A | |
| ENST00000675648.1:n.1987-15G>A | ||
| ENST00000675916.1:c.856-15G>A | ||
| ENST00000676173.1:n.3357-15G>A | ||
| ENST00000255078.7:c.2612-15G>A | ENSP00000255078.3:n.2612-15G>A | |
| ENST00000543739.5:n.1605-15G>A | ||
| ENST00000544521.1:n.428G>A | ||
| NM_002180.2:c.2612-15G>A , LRG_250t1:c.2612-15G>A | NP_002171.2:n.2612-15G>A | |
| XM_005273974.2:c.1601-15G>A | XP_005274031.1:n.1601-15G>A | |
| XM_005273975.2:c.1484-15G>A | XP_005274032.1:n.1484-15G>A | |
| XM_011544994.1:c.1379-15G>A | XP_011543296.1:n.1379-15G>A | |
| XR_949903.1:n.2714-15G>A | ||
| XM_005273975.3:c.1484-15G>A | XP_005274032.1:n.1484-15G>A | |
| XM_017017669.2:c.1601-15G>A | XP_016873158.1:n.1601-15G>A | |
| XM_017017670.2:c.1601-15G>A | XP_016873159.1:n.1601-15G>A | |
| XR_949903.3:n.2710-15G>A | ||
| NM_002180.3:c.2612-15G>A MANE Select | NP_002171.2:n.2612-15G>A |