Linked Data
ClinVar Variation Id:
511478
dbSNP Id:
rs751876434
ExAC:
7:141333681 G / T
gnomAD v2:
7-141333681-G-T
gnomAD v3:
7-141633881-G-T
gnomAD v4:
7-141633881-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141633881G>T , CM000669.2:g.141633881G>T | GRCh38 |
| NC_000007.13:g.141333681G>T , CM000669.1:g.141333681G>T | GRCh37 |
| NC_000007.12:g.140980150G>T | NCBI36 |
| NG_032079.1:g.87604G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.*552-20G>T | ENSP00000497039.1:n.*552-20G>T | |
| ENST00000648068.1:c.589-20G>T | ENSP00000498112.1:n.589-20G>T | |
| ENST00000648395.1:c.313-20G>T | ENSP00000497666.1:n.313-20G>T | |
| ENST00000648489.1:n.620-20G>T | ||
| ENST00000648690.1:c.313-20G>T | ENSP00000497945.1:n.313-20G>T | |
| ENST00000649014.1:c.589-3079G>T | ENSP00000497984.1:n.589-3079G>T | |
| ENST00000649286.2:c.589-20G>T MANE Select | ENSP00000497280.1:n.589-20G>T | |
| ENST00000649365.1:c.*597-20G>T | ENSP00000496835.1:n.*597-20G>T | |
| ENST00000649790.1:c.*25-20G>T | ENSP00000498193.1:n.*25-20G>T | |
| ENST00000649914.1:c.577-20G>T | ENSP00000497848.1:n.577-20G>T | |
| ENST00000650006.1:c.589-20G>T | ENSP00000497457.1:n.589-20G>T | |
| ENST00000650365.1:c.*474-20G>T | ENSP00000497358.1:n.*474-20G>T | |
| ENST00000650547.1:c.589-20G>T | ENSP00000496789.1:n.589-20G>T | |
| ENST00000355413.8:c.589-20G>T | ENSP00000347581.4:n.589-20G>T | |
| ENST00000473247.5:c.505-20G>T | ENSP00000420776.1:n.505-20G>T | |
| ENST00000494688.1:c.580-20G>T | ENSP00000418101.1:n.580-20G>T | |
| ENST00000629555.2:c.580-20G>T | ENSP00000487274.1:n.580-20G>T | |
| NM_018238.3:c.589-20G>T | NP_060708.1:n.589-20G>T | |
| XM_005250023.3:c.589-20G>T | XP_005250080.1:n.589-20G>T | |
| XM_011516397.1:c.589-20G>T | XP_011514699.1:n.589-20G>T | |
| NM_001364948.1:c.589-20G>T | NP_001351877.1:n.589-20G>T | |
| NM_018238.4:c.589-20G>T MANE Select | NP_060708.1:n.589-20G>T | |
| XM_011516397.3:c.589-20G>T | XP_011514699.1:n.589-20G>T | |
| XM_024446835.1:c.589-20G>T | XP_024302603.1:n.589-20G>T | |
| NM_001364948.2:c.589-20G>T | NP_001351877.1:n.589-20G>T | |
| NM_001364948.3:c.589-20G>T | NP_001351877.1:n.589-20G>T |