Linked Data
ClinVar Variation Id:
2042518
ClinVar RCV Id:
RCV002917540
dbSNP Id:
rs766413410
ExAC:
7:141315268 C / A
gnomAD v2:
7-141315268-C-A
gnomAD v3:
7-141615468-C-A
gnomAD v4:
7-141615468-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141615468C>A , CM000669.2:g.141615468C>A | GRCh38 |
| NC_000007.13:g.141315268C>A , CM000669.1:g.141315268C>A | GRCh37 |
| NC_000007.12:g.140961737C>A | NCBI36 |
| NG_032079.1:g.69191C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.*387-3C>A | ENSP00000497039.1:n.*387-3C>A | |
| ENST00000647898.1:n.314-3C>A | ||
| ENST00000648068.1:c.424-3C>A | ENSP00000498112.1:n.424-3C>A | |
| ENST00000648395.1:c.148-3C>A | ENSP00000497666.1:n.148-3C>A | |
| ENST00000648489.1:n.455-3C>A | ||
| ENST00000648690.1:c.148-3C>A | ENSP00000497945.1:n.148-3C>A | |
| ENST00000649014.1:c.424-3C>A | ENSP00000497984.1:n.424-3C>A | |
| ENST00000649286.2:c.424-3C>A MANE Select | ENSP00000497280.1:n.424-3C>A | |
| ENST00000649365.1:c.*432-3C>A | ENSP00000496835.1:n.*432-3C>A | |
| ENST00000649538.1:n.452-3C>A | ||
| ENST00000649790.1:c.148-3C>A | ENSP00000498193.1:n.148-3C>A | |
| ENST00000649914.1:c.412-3C>A | ENSP00000497848.1:n.412-3C>A | |
| ENST00000650006.1:c.424-3C>A | ENSP00000497457.1:n.424-3C>A | |
| ENST00000650365.1:c.*309-3C>A | ENSP00000497358.1:n.*309-3C>A | |
| ENST00000650547.1:c.424-3C>A | ENSP00000496789.1:n.424-3C>A | |
| ENST00000355413.8:c.424-3C>A | ENSP00000347581.4:n.424-3C>A | |
| ENST00000465241.5:n.435-3C>A | ||
| ENST00000473247.5:c.340-3C>A | ENSP00000420776.1:n.340-3C>A | |
| ENST00000473884.5:c.*243-3C>A | ENSP00000420540.1:n.*243-3C>A | |
| ENST00000494688.1:c.415-3C>A | ENSP00000418101.1:n.415-3C>A | |
| ENST00000496273.1:n.187-3C>A | ||
| ENST00000629555.2:c.415-3C>A | ENSP00000487274.1:n.415-3C>A | |
| NM_018238.3:c.424-3C>A | NP_060708.1:n.424-3C>A | |
| XM_005250023.3:c.424-3C>A | XP_005250080.1:n.424-3C>A | |
| XM_011516397.1:c.424-3C>A | XP_011514699.1:n.424-3C>A | |
| NM_001364948.1:c.424-3C>A | NP_001351877.1:n.424-3C>A | |
| NM_018238.4:c.424-3C>A MANE Select | NP_060708.1:n.424-3C>A | |
| XM_011516397.3:c.424-3C>A | XP_011514699.1:n.424-3C>A | |
| XM_024446835.1:c.424-3C>A | XP_024302603.1:n.424-3C>A | |
| NM_001364948.2:c.424-3C>A | NP_001351877.1:n.424-3C>A | |
| NM_001364948.3:c.424-3C>A | NP_001351877.1:n.424-3C>A |