Linked Data
ClinVar Variation Id:
374602
dbSNP Id:
rs1057519166
gnomAD v2:
7-30634627-C-T
gnomAD v3:
7-30595011-C-T
gnomAD v4:
7-30595011-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30595011C>T , CM000669.2:g.30595011C>T | GRCh38 |
| NC_000007.13:g.30634627C>T , CM000669.1:g.30634627C>T | GRCh37 |
| NC_000007.12:g.30601152C>T | NCBI36 |
| NG_007942.1:g.5447C>T , LRG_243:g.5447C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.90C>T MANE Select | ENSP00000373918.3:p.Leu30= | |
| ENST00000444666.6:c.90C>T | ENSP00000415447.2:p.Leu30= | |
| ENST00000454308.6:c.90C>T | ENSP00000392677.2:p.Leu30= | |
| ENST00000470392.2:n.180C>T | ||
| ENST00000478124.6:n.153C>T | ||
| ENST00000485784.2:n.169C>T | ||
| ENST00000674616.1:c.90C>T | ENSP00000502408.1:p.Leu30= | |
| ENST00000674643.1:c.90C>T | ENSP00000501636.1:p.Leu30= | |
| ENST00000674737.1:c.90C>T | ENSP00000502464.1:p.Leu30= | |
| ENST00000674807.1:c.90C>T | ENSP00000502814.1:p.Leu30= | |
| ENST00000674815.1:c.-148+59C>T | ENSP00000502799.1:n.-148+59C>T | |
| ENST00000674851.1:c.-184+59C>T | ENSP00000502451.1:n.-184+59C>T | |
| ENST00000674969.1:n.130C>T | ||
| ENST00000675051.1:c.22-3785C>T | ENSP00000502296.1:n.22-3785C>T | |
| ENST00000675529.1:c.90C>T | ENSP00000501655.1:p.Leu30= | |
| ENST00000675587.1:n.106C>T | ||
| ENST00000675651.1:c.90C>T | ENSP00000502513.1:p.Leu30= | |
| ENST00000675693.1:c.18+72C>T | ENSP00000502174.1:n.18+72C>T | |
| ENST00000675810.1:c.90C>T | ENSP00000502743.1:p.Leu30= | |
| ENST00000675859.1:c.90C>T | ENSP00000502033.1:p.Leu30= | |
| ENST00000675863.1:n.98C>T | ||
| ENST00000675886.1:n.118C>T | ||
| ENST00000676088.1:c.90C>T | ENSP00000501884.1:p.Leu30= | |
| ENST00000676140.1:c.90C>T | ENSP00000502571.1:p.Leu30= | |
| ENST00000676164.1:c.90C>T | ENSP00000501986.1:p.Leu30= | |
| ENST00000676210.1:c.90C>T | ENSP00000502373.1:p.Leu30= | |
| ENST00000676259.1:c.90C>T | ENSP00000501980.1:p.Leu30= | |
| ENST00000676403.1:c.90C>T | ENSP00000502681.1:p.Leu30= | |
| ENST00000389266.7:c.90C>T | ENSP00000373918.3:p.Leu30= | |
| ENST00000454308.5:c.90C>T | ENSP00000392677.1:p.Leu30= | |
| ENST00000478124.5:n.128C>T | ||
| ENST00000627489.1:c.90C>T | ENSP00000485931.1:p.Leu30= | |
| NM_001316772.1:c.-73C>T | NP_001303701.1:n.-73C>T | |
| NM_002047.2:c.90C>T , LRG_243t1:c.90C>T | NP_002038.2:p.Leu30= | |
| NM_002047.3:c.90C>T | NP_002038.2:p.Leu30= | |
| XM_006715686.2:c.-390C>T | XP_006715749.1:n.-390C>T | |
| NM_002047.4:c.90C>T MANE Select | NP_002038.2:p.Leu30= |