Linked Data
ClinVar Variation Id:
2043322
ClinVar RCV Id:
RCV002908604
dbSNP Id:
rs1351530754
gnomAD v2:
10-97446287-C-T
gnomAD v3:
10-95686530-C-T
gnomAD v4:
10-95686530-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95686530C>T , CM000672.2:g.95686530C>T | GRCh38 |
| NC_000010.10:g.97446287C>T , CM000672.1:g.97446287C>T | GRCh37 |
| NC_000010.9:g.97436277C>T | NCBI36 |
| NG_032953.1:g.12614G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371217.10:c.853G>A MANE Select | ENSP00000360261.5:p.Val285Ile | |
| ENST00000614499.5:c.907G>A | ENSP00000483364.2:p.Val303Ile | |
| ENST00000679485.1:n.877G>A | ||
| ENST00000679566.1:c.852+514G>A | ENSP00000505964.1:n.852+514G>A | |
| ENST00000679984.1:c.*108G>A | ENSP00000504998.1:n.*108G>A | |
| ENST00000680144.1:c.853G>A | ENSP00000506398.1:p.Val285Ile | |
| ENST00000680353.1:c.853G>A | ENSP00000505367.1:p.Val285Ile | |
| ENST00000680697.1:n.543-1906G>A | ||
| ENST00000680709.1:c.616G>A | ENSP00000505830.1:p.Val206Ile | |
| ENST00000681127.1:n.906G>A | ||
| ENST00000681739.1:n.908G>A | ||
| ENST00000681928.1:c.*130+514G>A | ENSP00000505552.1:n.*130+514G>A | |
| ENST00000265993.13:c.907G>A | ENSP00000265993.9:p.Val303Ile | |
| ENST00000371209.5:c.853G>A | ENSP00000360253.5:p.Val285Ile | |
| ENST00000371217.9:c.853G>A | ENSP00000360261.5:p.Val285Ile | |
| ENST00000430368.6:c.616G>A | ENSP00000387567.1:p.Val206Ile | |
| ENST00000614499.4:c.853G>A | ENSP00000483364.1:p.Val285Ile | |
| NM_001143973.1:c.616G>A | NP_001137445.1:p.Val206Ile | |
| NM_015631.5:c.853G>A | NP_056446.4:p.Val285Ile | |
| XM_005269690.1:c.907G>A | XP_005269747.1:p.Val303Ile | |
| XM_011539627.1:c.907G>A | XP_011537929.1:p.Val303Ile | |
| XM_011539628.1:c.907G>A | XP_011537930.1:p.Val303Ile | |
| XM_005269690.2:c.907G>A | XP_005269747.1:p.Val303Ile | |
| XM_011539627.2:c.907G>A | XP_011537929.1:p.Val303Ile | |
| XM_011539628.2:c.907G>A | XP_011537930.1:p.Val303Ile | |
| XM_024447935.1:c.907G>A | XP_024303703.1:p.Val303Ile | |
| NM_015631.6:c.853G>A MANE Select | NP_056446.4:p.Val285Ile | |
| NM_001143973.2:c.616G>A | NP_001137445.1:p.Val206Ile |