Linked Data
ClinVar Variation Id:
512456
dbSNP Id:
rs148971840
ExAC:
7:141311024 C / T
gnomAD v2:
7-141311024-C-T
gnomAD v3:
7-141611224-C-T
gnomAD v4:
7-141611224-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141611224C>T , CM000669.2:g.141611224C>T | GRCh38 |
| NC_000007.13:g.141311024C>T , CM000669.1:g.141311024C>T | GRCh37 |
| NC_000007.12:g.140957493C>T | NCBI36 |
| NG_032079.1:g.64947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.327C>T | ENSP00000497039.1:p.Leu109= | |
| ENST00000647898.1:n.217C>T | ||
| ENST00000648068.1:c.327C>T | ENSP00000498112.1:p.Leu109= | |
| ENST00000648395.1:c.51C>T | ENSP00000497666.1:p.Leu17= | |
| ENST00000648489.1:n.358C>T | ||
| ENST00000648690.1:c.51C>T | ENSP00000497945.1:p.Leu17= | |
| ENST00000649014.1:c.327C>T | ENSP00000497984.1:p.Leu109= | |
| ENST00000649286.2:c.327C>T MANE Select | ENSP00000497280.1:p.Leu109= | |
| ENST00000649365.1:c.*335C>T | ENSP00000496835.1:n.*335C>T | |
| ENST00000649538.1:n.355C>T | ||
| ENST00000649790.1:c.51C>T | ENSP00000498193.1:p.Leu17= | |
| ENST00000649914.1:c.315C>T | ENSP00000497848.1:p.Leu105= | |
| ENST00000650006.1:c.327C>T | ENSP00000497457.1:p.Leu109= | |
| ENST00000650365.1:c.*212C>T | ENSP00000497358.1:n.*212C>T | |
| ENST00000650547.1:c.327C>T | ENSP00000496789.1:p.Leu109= | |
| ENST00000355413.8:c.327C>T | ENSP00000347581.4:p.Leu109= | |
| ENST00000465241.5:n.338C>T | ||
| ENST00000473247.5:c.243C>T | ENSP00000420776.1:p.Leu81= | |
| ENST00000473884.5:c.*146C>T | ENSP00000420540.1:n.*146C>T | |
| ENST00000494688.1:c.318C>T | ENSP00000418101.1:p.Leu106= | |
| ENST00000496273.1:n.90C>T | ||
| ENST00000629555.2:c.318C>T | ENSP00000487274.1:p.Leu106= | |
| NM_018238.3:c.327C>T | NP_060708.1:p.Leu109= | |
| XM_005250023.3:c.327C>T | XP_005250080.1:p.Leu109= | |
| XM_011516397.1:c.327C>T | XP_011514699.1:p.Leu109= | |
| NM_001364948.1:c.327C>T | NP_001351877.1:p.Leu109= | |
| NM_018238.4:c.327C>T MANE Select | NP_060708.1:p.Leu109= | |
| XM_011516397.3:c.327C>T | XP_011514699.1:p.Leu109= | |
| XM_024446835.1:c.327C>T | XP_024302603.1:p.Leu109= | |
| NM_001364948.2:c.327C>T | NP_001351877.1:p.Leu109= | |
| NM_001364948.3:c.327C>T | NP_001351877.1:p.Leu109= |