Linked Data
ClinVar Variation Id:
2186567
ClinVar RCV Id:
RCV002606738
dbSNP Id:
rs559350367
ExAC:
5:34930025 A / G
gnomAD v2:
5-34930025-A-G
gnomAD v3:
5-34929920-A-G
gnomAD v4:
5-34929920-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34929920A>G , CM000667.2:g.34929920A>G | GRCh38 |
| NC_000005.9:g.34930025A>G , CM000667.1:g.34930025A>G | GRCh37 |
| NC_000005.8:g.34965782A>G | NCBI36 |
| NG_052822.1:g.5381A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506762.2:c.-252+4A>G | ENSP00000513864.1:n.-252+4A>G | |
| ENST00000512136.2:n.324+4A>G | ||
| ENST00000642851.1:c.97+4A>G | ENSP00000496545.1:n.97+4A>G | |
| ENST00000648817.1:c.97+4A>G MANE Select | ENSP00000497410.1:n.97+4A>G | |
| ENST00000342382.8:c.97+4A>G | ENSP00000343728.4:n.97+4A>G | |
| ENST00000382021.2:c.97+4A>G | ENSP00000371451.2:n.97+4A>G | |
| NM_001012339.2:c.97+4A>G | NP_001012339.2:n.97+4A>G | |
| NM_194283.3:c.97+4A>G | NP_919259.3:n.97+4A>G | |
| XM_005248249.3:c.97+4A>G | XP_005248306.1:n.97+4A>G | |
| XM_005248250.2:c.97+4A>G | XP_005248307.1:n.97+4A>G | |
| XM_011513965.1:c.97+4A>G | XP_011512267.1:n.97+4A>G | |
| XM_011513966.1:c.97+4A>G | XP_011512268.1:n.97+4A>G | |
| NM_001012339.3:c.97+4A>G MANE Select | NP_001012339.2:n.97+4A>G | |
| NM_001348420.1:c.97+4A>G | NP_001335349.1:n.97+4A>G | |
| XM_005248250.3:c.358+4A>G | XP_005248307.2:n.358+4A>G | |
| XM_011513965.2:c.358+4A>G | XP_011512267.2:n.358+4A>G | |
| XM_011513966.2:c.358+4A>G | XP_011512268.2:n.358+4A>G | |
| NM_001348420.2:c.97+4A>G | NP_001335349.1:n.97+4A>G | |
| NM_194283.4:c.97+4A>G | NP_919259.3:n.97+4A>G |