Linked Data
ClinVar Variation Id:
505120
ClinVar RCV Id:
RCV000602348
dbSNP Id:
rs906307749
gnomAD v2:
11-17608134-T-G
gnomAD v3:
11-17586587-T-G
gnomAD v4:
11-17586587-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17586587T>G , CM000673.2:g.17586587T>G | GRCh38 |
| NC_000011.9:g.17608134T>G , CM000673.1:g.17608134T>G | GRCh37 |
| NC_000011.8:g.17564710T>G | NCBI36 |
| NG_033191.1:g.44215T>G | |
| NG_033191.2:g.44215T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399391.7:c.2903+6T>G | ENSP00000382323.2:n.2903+6T>G | |
| ENST00000399397.6:c.2867+6T>G MANE Select | ENSP00000382329.2:n.2867+6T>G | |
| ENST00000342528.2:c.87+6T>G | ENSP00000341666.2:n.87+6T>G | |
| ENST00000399391.6:c.2903+6T>G | ENSP00000382323.2:n.2903+6T>G | |
| ENST00000399397.5:c.2867+6T>G | ENSP00000382329.2:n.2867+6T>G | |
| NM_001277269.1:c.2903+6T>G | NP_001264198.1:n.2903+6T>G | |
| NM_001292063.1:c.2867+6T>G | NP_001278992.1:n.2867+6T>G | |
| NM_001277269.2:c.2903+6T>G | NP_001264198.1:n.2903+6T>G | |
| NM_001292063.2:c.2867+6T>G MANE Select | NP_001278992.1:n.2867+6T>G |