Linked Data
ClinVar Variation Id:
2927619
ClinVar RCV Id:
RCV003784249
dbSNP Id:
rs776941252
ExAC:
11:68682501 A / G
gnomAD v2:
11-68682501-A-G
gnomAD v3:
11-68915033-A-G
gnomAD v4:
11-68915033-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68915033A>G , CM000673.2:g.68915033A>G | GRCh38 |
| NC_000011.9:g.68682501A>G , CM000673.1:g.68682501A>G | GRCh37 |
| NC_000011.8:g.68439077A>G | NCBI36 |
| NG_007976.1:g.16183A>G , LRG_250:g.16183A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.912+10A>G MANE Select | ENSP00000255078.4:n.912+10A>G | |
| ENST00000539224.2:c.1041+10A>G | ||
| ENST00000674955.1:c.912+10A>G | ENSP00000502463.1:n.912+10A>G | |
| ENST00000675118.1:c.259+10A>G | ||
| ENST00000675119.1:c.201+10A>G | ENSP00000501861.1:n.201+10A>G | |
| ENST00000675305.1:c.201+10A>G | ENSP00000502365.1:n.201+10A>G | |
| ENST00000675464.1:c.195+16A>G | ENSP00000502650.1:n.195+16A>G | |
| ENST00000675615.1:c.912+10A>G | ENSP00000502413.1:n.912+10A>G | |
| ENST00000675683.1:c.299+10A>G | ||
| ENST00000676173.1:n.956+10A>G | ||
| ENST00000676228.1:c.*235+10A>G | ENSP00000502375.1:n.*235+10A>G | |
| ENST00000255078.7:c.912+10A>G | ENSP00000255078.3:n.912+10A>G | |
| NM_002180.2:c.912+10A>G , LRG_250t1:c.912+10A>G | NP_002171.2:n.912+10A>G | |
| XM_005273974.2:c.-100+10A>G | XP_005274031.1:n.-100+10A>G | |
| XM_005273976.1:c.912+10A>G | XP_005274033.1:n.912+10A>G | |
| XR_247198.1:n.1014+10A>G | ||
| XR_949903.1:n.1014+10A>G | ||
| XM_005273976.2:c.912+10A>G | XP_005274033.1:n.912+10A>G | |
| XM_017017669.2:c.-100+10A>G | XP_016873158.1:n.-100+10A>G | |
| XM_017017670.2:c.-100+10A>G | XP_016873159.1:n.-100+10A>G | |
| XM_017017671.2:c.912+10A>G | XP_016873160.1:n.912+10A>G | |
| XR_949903.3:n.1010+10A>G | ||
| NM_002180.3:c.912+10A>G MANE Select | NP_002171.2:n.912+10A>G |