Linked Data
ClinVar Variation Id:
190486
dbSNP Id:
rs149244653
ExAC:
7:91671427 C / T
gnomAD v2:
7-91671427-C-T
gnomAD v3:
7-92042113-C-T
gnomAD v4:
7-92042113-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92042113C>T , CM000669.2:g.92042113C>T | GRCh38 |
| NC_000007.13:g.91671427C>T , CM000669.1:g.91671427C>T | GRCh37 |
| NC_000007.12:g.91509363C>T | NCBI36 |
| NG_011623.1:g.106239C>T , LRG_331:g.106239C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.4985C>T MANE Select | ENSP00000348573.3:p.Ala1662Val | |
| ENST00000359028.7:c.4985C>T | ENSP00000351922.4:p.Ala1662Val | |
| ENST00000674381.2:c.*4714C>T | ENSP00000501536.2:n.*4714C>T | |
| ENST00000679448.1:c.4985C>T | ENSP00000505889.1:p.Ala1662Val | |
| ENST00000679457.1:c.4985C>T | ENSP00000505450.1:p.Ala1662Val | |
| ENST00000679474.1:n.5207C>T | ||
| ENST00000679521.1:c.4931C>T | ENSP00000505456.1:p.Ala1644Val | |
| ENST00000679554.1:c.*4770C>T | ENSP00000506415.1:n.*4770C>T | |
| ENST00000679722.1:n.5207C>T | ||
| ENST00000679821.1:c.4727C>T | ENSP00000506040.1:p.Ala1576Val | |
| ENST00000680047.1:n.5207C>T | ||
| ENST00000680072.1:c.4985C>T | ENSP00000506581.1:p.Ala1662Val | |
| ENST00000680074.1:n.5207C>T | ||
| ENST00000680181.1:c.4892C>T | ENSP00000505548.1:p.Ala1631Val | |
| ENST00000680513.1:c.4918-555C>T | ENSP00000505284.1:n.4918-555C>T | |
| ENST00000680534.1:c.4985C>T | ENSP00000506674.1:p.Ala1662Val | |
| ENST00000680766.1:c.4985C>T | ENSP00000505204.1:p.Ala1662Val | |
| ENST00000680952.1:c.4985C>T | ENSP00000506407.1:p.Ala1662Val | |
| ENST00000681412.1:c.4985C>T | ENSP00000506486.1:p.Ala1662Val | |
| ENST00000681722.1:c.4985C>T | ENSP00000506566.1:p.Ala1662Val | |
| ENST00000356239.7:c.4985C>T | ENSP00000348573.3:p.Ala1662Val | |
| ENST00000358100.6:c.4918-555C>T | ENSP00000350813.3:n.4918-555C>T | |
| ENST00000359028.6:c.5018C>T | ENSP00000351922.3:p.Ala1673Val | |
| ENST00000484815.1:n.196-555C>T | ||
| NM_005751.4:c.4985C>T , LRG_331t1:c.4985C>T | NP_005742.4:p.Ala1662Val | |
| NM_147185.2:c.4985C>T | NP_671714.1:p.Ala1662Val | |
| XM_006715827.1:c.4918-555C>T | XP_006715890.1:n.4918-555C>T | |
| XM_011515709.1:c.5021C>T | XP_011514011.1:p.Ala1674Val | |
| XM_011515710.1:c.5021C>T | XP_011514012.1:p.Ala1674Val | |
| XM_011515711.1:c.4985C>T | XP_011514013.1:p.Ala1662Val | |
| XM_011515712.1:c.5021C>T | XP_011514014.1:p.Ala1674Val | |
| XM_011515713.1:c.4967C>T | XP_011514015.1:p.Ala1656Val | |
| XM_011515714.1:c.5021C>T | XP_011514016.1:p.Ala1674Val | |
| XM_011515716.1:c.5021C>T | XP_011514018.1:p.Ala1674Val | |
| XM_011515717.1:c.4954-555C>T | XP_011514019.1:n.4954-555C>T | |
| XM_011515718.1:c.5021C>T | XP_011514020.1:p.Ala1674Val | |
| XM_011515719.1:c.5021C>T | XP_011514021.1:p.Ala1674Val | |
| XM_011515720.1:c.4954-555C>T | XP_011514022.1:n.4954-555C>T | |
| XM_017011642.2:c.4985C>T | XP_016867131.1:p.Ala1662Val | |
| XM_017011643.2:c.4985C>T | XP_016867132.1:p.Ala1662Val | |
| XM_017011644.2:c.4985C>T | XP_016867133.1:p.Ala1662Val | |
| XM_017011645.2:c.4931C>T | XP_016867134.1:p.Ala1644Val | |
| XM_017011646.2:c.4985C>T | XP_016867135.1:p.Ala1662Val | |
| XM_017011647.2:c.4892C>T | XP_016867136.1:p.Ala1631Val | |
| XM_017011648.2:c.4985C>T | XP_016867137.1:p.Ala1662Val | |
| XM_017011649.2:c.4985C>T | XP_016867138.1:p.Ala1662Val | |
| XM_017011650.2:c.4985C>T | XP_016867139.1:p.Ala1662Val | |
| XM_017011651.2:c.4918-555C>T | XP_016867140.1:n.4918-555C>T | |
| XM_017011652.2:c.4985C>T | XP_016867141.1:p.Ala1662Val | |
| XM_017011653.2:c.4892C>T | XP_016867142.1:p.Ala1631Val | |
| XM_017011654.2:c.4918-555C>T | XP_016867143.1:n.4918-555C>T | |
| XM_017011655.2:c.4613C>T | XP_016867144.1:p.Ala1538Val | |
| XM_017011656.2:c.4613C>T | XP_016867145.1:p.Ala1538Val | |
| XM_017011657.2:c.650C>T | XP_016867146.1:p.Ala217Val | |
| XM_024446631.1:c.4918-555C>T | XP_024302399.1:n.4918-555C>T | |
| NM_147185.3:c.4985C>T | NP_671714.1:p.Ala1662Val | |
| NM_005751.5:c.4985C>T MANE Select | NP_005742.4:p.Ala1662Val |