Linked Data
ClinVar Variation Id:
2179325
ClinVar RCV Id:
RCV002615096
dbSNP Id:
rs376629164
ExAC:
16:88876505 C / T
gnomAD v2:
16-88876505-C-T
gnomAD v3:
16-88810097-C-T
gnomAD v4:
16-88810097-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810097C>T , CM000678.2:g.88810097C>T | GRCh38 |
| NC_000016.9:g.88876505C>T , CM000678.1:g.88876505C>T | GRCh37 |
| NC_000016.8:g.87404006C>T | NCBI36 |
| NG_008013.1:g.6838G>A | |
| NG_028266.1:g.11320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.373G>A MANE Select | ENSP00000367615.3:p.Val125Ile | |
| ENST00000378364.7:c.373G>A | ENSP00000367615.3:p.Val125Ile | |
| ENST00000426324.6:c.373G>A | ENSP00000397007.2:p.Val125Ile | |
| ENST00000562464.1:n.383G>A | ||
| ENST00000563655.5:c.292G>A | ENSP00000456012.1:p.Val98Ile | |
| ENST00000567057.5:n.172G>A | ||
| ENST00000567391.5:c.*47G>A | ENSP00000457964.1:n.*47G>A | |
| ENST00000567713.5:c.321+326G>A | ENSP00000455749.1:n.321+326G>A | |
| ENST00000568319.5:c.*47G>A | ENSP00000456905.1:n.*47G>A | |
| ENST00000568575.1:n.302G>A | ||
| ENST00000569616.1:c.371G>A | ||
| NM_000485.2:c.373G>A | NP_000476.1:p.Val125Ile | |
| NM_001030018.1:c.373G>A | NP_001025189.1:p.Val125Ile | |
| NM_000485.3:c.373G>A MANE Select | NP_000476.1:p.Val125Ile | |
| NM_001030018.2:c.373G>A | NP_001025189.1:p.Val125Ile |