Linked Data
ClinVar Variation Id:
1057020
ClinVar RCV Id:
RCV001365933
dbSNP Id:
rs371645500
ExAC:
4:6302442 C / T
gnomAD v2:
4-6302442-C-T
gnomAD v3:
4-6300715-C-T
gnomAD v4:
4-6300715-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300715C>T , CM000666.2:g.6300715C>T | GRCh38 |
| NC_000004.11:g.6302442C>T , CM000666.1:g.6302442C>T | GRCh37 |
| NC_000004.10:g.6353343C>T | NCBI36 |
| NG_011700.1:g.35866C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.956C>T | ENSP00000507852.1:p.Ala319Val | |
| ENST00000683395.1:c.897C>T | ||
| ENST00000684087.1:c.920C>T | ENSP00000506978.1:p.Ala307Val | |
| ENST00000506362.2:c.671C>T | ENSP00000424103.2:p.Ala224Val | |
| ENST00000673642.1:c.661-82C>T | ENSP00000501242.1:n.661-82C>T | |
| ENST00000673991.1:c.956C>T | ENSP00000501033.1:p.Ala319Val | |
| ENST00000226760.5:c.920C>T MANE Select | ENSP00000226760.1:p.Ala307Val | |
| ENST00000503569.5:c.920C>T | ENSP00000423337.1:p.Ala307Val | |
| ENST00000506362.1:c.553C>T | ||
| ENST00000507765.1:n.1105C>T | ||
| ENST00000513395.1:n.478C>T | ||
| NM_001145853.1:c.920C>T | NP_001139325.1:p.Ala307Val | |
| NM_006005.3:c.920C>T MANE Select | NP_005996.2:p.Ala307Val | |
| XM_017008586.1:c.929C>T | XP_016864075.1:p.Ala310Val |