Linked Data
ClinVar Variation Id:
1324
ClinVar RCV Id:
RCV000001387
RCV000192241
RCV000416086
RCV001082848
RCV001262290
RCV002227925
RCV001818117
RCV003924791
dbSNP Id:
rs145770066
ExAC:
19:50334047 C / T
gnomAD v2:
19-50334047-C-T
gnomAD v3:
19-49830790-C-T
gnomAD v4:
19-49830790-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49830790C>T , CM000681.2:g.49830790C>T | GRCh38 |
| NC_000019.9:g.50334047C>T , CM000681.1:g.50334047C>T | GRCh37 |
| NC_000019.8:g.55025859C>T | NCBI36 |
| NG_017091.1:g.17512C>T , LRG_368:g.17512C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.1004C>T | ENSP00000470692.3:p.Ala335Val | |
| ENST00000312865.10:c.1004C>T MANE Select | ENSP00000326767.5:p.Ala335Val | |
| ENST00000538643.5:c.365C>T | ENSP00000437496.1:p.Ala122Val | |
| ENST00000595185.5:c.688+842C>T | ENSP00000470027.1:n.688+842C>T | |
| ENST00000612791.4:c.761+628C>T | ENSP00000479851.1:n.761+628C>T | |
| ENST00000612854.4:c.450+1775C>T | ENSP00000482155.1:n.450+1775C>T | |
| ENST00000617849.4:c.209C>T | ENSP00000484882.1:p.Ala70Val | |
| ENST00000618715.4:c.209C>T | ENSP00000480731.1:p.Ala70Val | |
| ENST00000620467.4:c.972+32C>T | ENSP00000482659.1:n.972+32C>T | |
| ENST00000622402.4:c.146-5037C>T | ENSP00000478074.1:n.146-5037C>T | |
| NM_030973.3:c.1004C>T , LRG_368t1:c.1004C>T | NP_112235.2:p.Ala335Val | |
| XM_011527353.1:c.1004C>T | XP_011525655.1:p.Ala335Val | |
| NM_001378355.1:c.1004C>T | NP_001365284.1:p.Ala335Val | |
| NM_030973.4:c.1004C>T MANE Select | NP_112235.2:p.Ala335Val |