Linked Data
ClinVar Variation Id:
261111
dbSNP Id:
rs2856451
ExAC:
6:32011358 A / G
gnomAD v2:
6-32011358-A-G
gnomAD v3:
6-32043581-A-G
gnomAD v4:
6-32043581-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32043581A>G , CM000668.2:g.32043581A>G | GRCh38 |
| NC_000006.11:g.32011358A>G , CM000668.1:g.32011358A>G | GRCh37 |
| NC_000006.10:g.32119337A>G | NCBI36 |
| NG_007941.2:g.10274A>G | |
| NG_008337.2:g.70794T>C | |
| NG_007941.3:g.10277A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644971.2:c.11531-25T>C MANE Select | ENSP00000496448.1:n.11531-25T>C | |
| ENST00000647633.1:c.12272-25T>C | ENSP00000497649.1:n.12272-25T>C | |
| ENST00000375244.7:c.11531-25T>C | ENSP00000364393.3:n.11531-25T>C | |
| ENST00000451343.4:c.818-25T>C | ENSP00000407685.1:n.818-25T>C | |
| ENST00000490077.5:n.1358-25T>C | ||
| ENST00000611016.2:c.4685-25T>C | ENSP00000483409.1:n.4685-25T>C | |
| NM_019105.6:c.11525-25T>C | NP_061978.6:n.11525-25T>C | |
| NM_032470.3:c.818-25T>C | NP_115859.2:n.818-25T>C | |
| NM_001365276.1:c.11531-25T>C | NP_001352205.1:n.11531-25T>C | |
| NM_019105.7:c.11525-25T>C | NP_061978.6:n.11525-25T>C | |
| NM_001365276.2:c.11531-25T>C MANE Select | NP_001352205.1:n.11531-25T>C | |
| NM_019105.8:c.11525-25T>C | NP_061978.6:n.11525-25T>C | |
| NM_032470.4:c.818-25T>C | NP_115859.2:n.818-25T>C |