Linked Data
ClinVar Variation Id:
359058
dbSNP Id:
rs113085050
ExAC:
7:141315267 C / G
gnomAD v2:
7-141315267-C-G
gnomAD v3:
7-141615467-C-G
gnomAD v4:
7-141615467-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141615467C>G , CM000669.2:g.141615467C>G | GRCh38 |
| NC_000007.13:g.141315267C>G , CM000669.1:g.141315267C>G | GRCh37 |
| NC_000007.12:g.140961736C>G | NCBI36 |
| NG_032079.1:g.69190C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.*387-4C>G | ENSP00000497039.1:n.*387-4C>G | |
| ENST00000647898.1:n.314-4C>G | ||
| ENST00000648068.1:c.424-4C>G | ENSP00000498112.1:n.424-4C>G | |
| ENST00000648395.1:c.148-4C>G | ENSP00000497666.1:n.148-4C>G | |
| ENST00000648489.1:n.455-4C>G | ||
| ENST00000648690.1:c.148-4C>G | ENSP00000497945.1:n.148-4C>G | |
| ENST00000649014.1:c.424-4C>G | ENSP00000497984.1:n.424-4C>G | |
| ENST00000649286.2:c.424-4C>G MANE Select | ENSP00000497280.1:n.424-4C>G | |
| ENST00000649365.1:c.*432-4C>G | ENSP00000496835.1:n.*432-4C>G | |
| ENST00000649538.1:n.452-4C>G | ||
| ENST00000649790.1:c.148-4C>G | ENSP00000498193.1:n.148-4C>G | |
| ENST00000649914.1:c.412-4C>G | ENSP00000497848.1:n.412-4C>G | |
| ENST00000650006.1:c.424-4C>G | ENSP00000497457.1:n.424-4C>G | |
| ENST00000650365.1:c.*309-4C>G | ENSP00000497358.1:n.*309-4C>G | |
| ENST00000650547.1:c.424-4C>G | ENSP00000496789.1:n.424-4C>G | |
| ENST00000355413.8:c.424-4C>G | ENSP00000347581.4:n.424-4C>G | |
| ENST00000465241.5:n.435-4C>G | ||
| ENST00000473247.5:c.340-4C>G | ENSP00000420776.1:n.340-4C>G | |
| ENST00000473884.5:c.*243-4C>G | ENSP00000420540.1:n.*243-4C>G | |
| ENST00000494688.1:c.415-4C>G | ENSP00000418101.1:n.415-4C>G | |
| ENST00000496273.1:n.187-4C>G | ||
| ENST00000629555.2:c.415-4C>G | ENSP00000487274.1:n.415-4C>G | |
| NM_018238.3:c.424-4C>G | NP_060708.1:n.424-4C>G | |
| XM_005250023.3:c.424-4C>G | XP_005250080.1:n.424-4C>G | |
| XM_011516397.1:c.424-4C>G | XP_011514699.1:n.424-4C>G | |
| NM_001364948.1:c.424-4C>G | NP_001351877.1:n.424-4C>G | |
| NM_018238.4:c.424-4C>G MANE Select | NP_060708.1:n.424-4C>G | |
| XM_011516397.3:c.424-4C>G | XP_011514699.1:n.424-4C>G | |
| XM_024446835.1:c.424-4C>G | XP_024302603.1:n.424-4C>G | |
| NM_001364948.2:c.424-4C>G | NP_001351877.1:n.424-4C>G | |
| NM_001364948.3:c.424-4C>G | NP_001351877.1:n.424-4C>G |