Linked Data
ClinVar Variation Id:
360005
dbSNP Id:
rs765478968
ExAC:
7:30649229 C / T
gnomAD v2:
7-30649229-C-T
gnomAD v3:
7-30609613-C-T
gnomAD v4:
7-30609613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30609613C>T , CM000669.2:g.30609613C>T | GRCh38 |
| NC_000007.13:g.30649229C>T , CM000669.1:g.30649229C>T | GRCh37 |
| NC_000007.12:g.30615754C>T | NCBI36 |
| NG_007942.1:g.20049C>T , LRG_243:g.20049C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.764C>T MANE Select | ENSP00000373918.3:p.Ala255Val | |
| ENST00000444666.6:c.764C>T | ENSP00000415447.2:p.Ala255Val | |
| ENST00000470392.2:n.854C>T | ||
| ENST00000478124.6:n.827C>T | ||
| ENST00000485784.2:n.843C>T | ||
| ENST00000674616.1:c.*478C>T | ENSP00000502408.1:n.*478C>T | |
| ENST00000674643.1:c.764C>T | ENSP00000501636.1:p.Ala255Val | |
| ENST00000674734.1:n.1260C>T | ||
| ENST00000674737.1:c.*102C>T | ENSP00000502464.1:n.*102C>T | |
| ENST00000674807.1:c.764C>T | ENSP00000502814.1:p.Ala255Val | |
| ENST00000674815.1:c.395C>T | ENSP00000502799.1:p.Ala132Val | |
| ENST00000674851.1:c.395C>T | ENSP00000502451.1:p.Ala132Val | |
| ENST00000674969.1:n.2637C>T | ||
| ENST00000675051.1:c.563C>T | ENSP00000502296.1:p.Ala188Val | |
| ENST00000675529.1:c.*634C>T | ENSP00000501655.1:n.*634C>T | |
| ENST00000675587.1:n.780C>T | ||
| ENST00000675651.1:c.764C>T | ENSP00000502513.1:p.Ala255Val | |
| ENST00000675693.1:c.596C>T | ENSP00000502174.1:p.Ala199Val | |
| ENST00000675810.1:c.662C>T | ENSP00000502743.1:p.Ala221Val | |
| ENST00000675859.1:c.764C>T | ENSP00000502033.1:p.Ala255Val | |
| ENST00000675863.1:n.772C>T | ||
| ENST00000675886.1:n.6804C>T | ||
| ENST00000676088.1:c.*706C>T | ENSP00000501884.1:n.*706C>T | |
| ENST00000676140.1:c.764C>T | ENSP00000502571.1:p.Ala255Val | |
| ENST00000676164.1:c.*215C>T | ENSP00000501986.1:n.*215C>T | |
| ENST00000676210.1:c.*53C>T | ENSP00000502373.1:n.*53C>T | |
| ENST00000676259.1:c.*196C>T | ENSP00000501980.1:n.*196C>T | |
| ENST00000676403.1:c.764C>T | ENSP00000502681.1:p.Ala255Val | |
| ENST00000389266.7:c.764C>T | ENSP00000373918.3:p.Ala255Val | |
| ENST00000478124.5:n.802C>T | ||
| NM_001316772.1:c.602C>T | NP_001303701.1:p.Ala201Val | |
| NM_002047.2:c.764C>T , LRG_243t1:c.764C>T | NP_002038.2:p.Ala255Val | |
| NM_002047.3:c.764C>T | NP_002038.2:p.Ala255Val | |
| XM_006715686.1:c.395C>T | XP_006715749.1:p.Ala132Val | |
| XM_006715686.2:c.395C>T | XP_006715749.1:p.Ala132Val | |
| NM_002047.4:c.764C>T MANE Select | NP_002038.2:p.Ala255Val |