Linked Data
ClinVar Variation Id:
348999
ClinVar RCV Id:
RCV002061245
dbSNP Id:
rs200000369
ExAC:
4:5620192 A / G
gnomAD v2:
4-5620192-A-G
gnomAD v3:
4-5618465-A-G
gnomAD v4:
4-5618465-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5618465A>G , CM000666.2:g.5618465A>G | GRCh38 |
| NC_000004.11:g.5620192A>G , CM000666.1:g.5620192A>G | GRCh37 |
| NC_000004.10:g.5671093A>G | NCBI36 |
| NG_015821.1:g.96084T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344408.10:c.2706+13T>C MANE Select | ENSP00000342144.5:n.2706+13T>C | |
| ENST00000310917.6:c.2466+13T>C | ENSP00000311683.2:n.2466+13T>C | |
| ENST00000344408.9:c.2706+13T>C | ENSP00000342144.5:n.2706+13T>C | |
| ENST00000475313.5:c.2466+13T>C | ENSP00000431981.1:n.2466+13T>C | |
| ENST00000509670.1:c.*1099+13T>C | ENSP00000423876.1:n.*1099+13T>C | |
| NM_001166136.1:c.2466+13T>C | NP_001159608.1:n.2466+13T>C | |
| NM_147127.4:c.2706+13T>C | NP_667338.3:n.2706+13T>C | |
| XM_011513392.1:c.2715+13T>C | XP_011511694.1:n.2715+13T>C | |
| XM_011513393.1:c.2715+13T>C | XP_011511695.1:n.2715+13T>C | |
| XM_011513394.1:c.2475+13T>C | XP_011511696.1:n.2475+13T>C | |
| XM_017007736.1:c.2466+13T>C | XP_016863225.1:n.2466+13T>C | |
| XM_017007737.1:c.2466+13T>C | XP_016863226.1:n.2466+13T>C | |
| XM_017007738.1:c.2706+13T>C | XP_016863227.1:n.2706+13T>C | |
| XM_017007739.1:c.1026+13T>C | XP_016863228.1:n.1026+13T>C | |
| XM_024453893.1:c.1026+13T>C | XP_024309661.1:n.1026+13T>C | |
| XR_001741141.1:n.2771+13T>C | ||
| NM_147127.5:c.2706+13T>C MANE Select | NP_667338.3:n.2706+13T>C | |
| NM_001166136.2:c.2466+13T>C | NP_001159608.1:n.2466+13T>C |