Linked Data
ClinVar Variation Id:
2075914
ClinVar RCV Id:
RCV002979015
dbSNP Id:
rs147838635
ExAC:
4:6303323 G / T
gnomAD v2:
4-6303323-G-T
gnomAD v4:
4-6301596-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301596G>T , CM000666.2:g.6301596G>T | GRCh38 |
| NC_000004.11:g.6303323G>T , CM000666.1:g.6303323G>T | GRCh37 |
| NC_000004.10:g.6354224G>T | NCBI36 |
| NG_011700.1:g.36747G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1837G>T | ENSP00000507852.1:p.Val613Leu | |
| ENST00000683395.1:c.1778G>T | ||
| ENST00000684087.1:c.1801G>T | ENSP00000506978.1:p.Val601Leu | |
| ENST00000506362.2:c.1552G>T | ENSP00000424103.2:p.Val518Leu | |
| ENST00000673642.1:c.1460G>T | ENSP00000501242.1:n.1460G>T | |
| ENST00000673991.1:c.1837G>T | ENSP00000501033.1:p.Val613Leu | |
| ENST00000226760.5:c.1801G>T MANE Select | ENSP00000226760.1:p.Val601Leu | |
| ENST00000503569.5:c.1801G>T | ENSP00000423337.1:p.Val601Leu | |
| ENST00000507765.1:n.1986G>T | ||
| NM_001145853.1:c.1801G>T | NP_001139325.1:p.Val601Leu | |
| NM_006005.3:c.1801G>T MANE Select | NP_005996.2:p.Val601Leu | |
| XM_017008586.1:c.1810G>T | XP_016864075.1:p.Val604Leu |