Linked Data
ClinVar Variation Id:
3190520
ClinVar RCV Id:
RCV004482928
dbSNP Id:
rs780422068
ExAC:
4:6303315 C / T
gnomAD v2:
4-6303315-C-T
gnomAD v4:
4-6301588-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301588C>T , CM000666.2:g.6301588C>T | GRCh38 |
| NC_000004.11:g.6303315C>T , CM000666.1:g.6303315C>T | GRCh37 |
| NC_000004.10:g.6354216C>T | NCBI36 |
| NG_011700.1:g.36739C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1829C>T | ENSP00000507852.1:p.Ala610Val | |
| ENST00000683395.1:c.1770C>T | ||
| ENST00000684087.1:c.1793C>T | ENSP00000506978.1:p.Ala598Val | |
| ENST00000506362.2:c.1544C>T | ENSP00000424103.2:p.Ala515Val | |
| ENST00000673642.1:c.1452C>T | ENSP00000501242.1:n.1452C>T | |
| ENST00000673991.1:c.1829C>T | ENSP00000501033.1:p.Ala610Val | |
| ENST00000226760.5:c.1793C>T MANE Select | ENSP00000226760.1:p.Ala598Val | |
| ENST00000503569.5:c.1793C>T | ENSP00000423337.1:p.Ala598Val | |
| ENST00000507765.1:n.1978C>T | ||
| NM_001145853.1:c.1793C>T | NP_001139325.1:p.Ala598Val | |
| NM_006005.3:c.1793C>T MANE Select | NP_005996.2:p.Ala598Val | |
| XM_017008586.1:c.1802C>T | XP_016864075.1:p.Ala601Val |