Linked Data
ClinVar Variation Id:
227616
ClinVar RCV Id:
RCV000218710
dbSNP Id:
rs753626685
ExAC:
22:36680438 A / G
gnomAD v2:
22-36680438-A-G
gnomAD v3:
22-36284392-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36284392A>G , CM000684.2:g.36284392A>G | GRCh38 |
| NC_000022.10:g.36680438A>G , CM000684.1:g.36680438A>G | GRCh37 |
| NC_000022.9:g.35010384A>G | NCBI36 |
| NG_011884.2:g.108627T>C , LRG_567:g.108627T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685708.1:n.2025+11T>C | ||
| ENST00000685801.1:c.5655+11T>C | ENSP00000510688.1:n.5655+11T>C | |
| ENST00000690244.1:n.928+11T>C | ||
| ENST00000691109.1:n.5887+11T>C | ||
| ENST00000216181.11:c.5592+11T>C MANE Select | ENSP00000216181.6:n.5592+11T>C | |
| ENST00000216181.9:c.5592+11T>C | ENSP00000216181.5:n.5592+11T>C | |
| ENST00000475726.5:n.622+11T>C | ||
| ENST00000486218.1:n.610T>C | ||
| NM_002473.5:c.5592+11T>C , LRG_567t1:c.5592+11T>C | NP_002464.1:n.5592+11T>C | |
| XM_011530197.1:c.5592+11T>C | XP_011528499.1:n.5592+11T>C | |
| XM_011530197.2:c.5592+11T>C | XP_011528499.1:n.5592+11T>C | |
| XM_017028803.1:c.5592+11T>C | XP_016884292.1:n.5592+11T>C | |
| XM_017028804.1:c.5592+11T>C | XP_016884293.1:n.5592+11T>C | |
| XM_017028805.1:c.5592+11T>C | XP_016884294.1:n.5592+11T>C | |
| XM_017028806.1:c.5592+11T>C | XP_016884295.1:n.5592+11T>C | |
| NM_002473.6:c.5592+11T>C MANE Select | NP_002464.1:n.5592+11T>C |