Linked Data
ClinVar Variation Id:
988024
ClinVar RCV Id:
RCV001269416
dbSNP Id:
rs1165408563
gnomAD v2:
16-88876117-G-A
gnomAD v4:
16-88809709-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88809709G>A , CM000678.2:g.88809709G>A | GRCh38 |
| NC_000016.9:g.88876117G>A , CM000678.1:g.88876117G>A | GRCh37 |
| NC_000016.8:g.87403618G>A | NCBI36 |
| NG_008013.1:g.7226C>T | |
| NG_028266.1:g.10932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.532C>T MANE Select | ENSP00000367615.3:p.Gln178Ter | |
| ENST00000378364.7:c.532C>T | ENSP00000367615.3:p.Gln178Ter | |
| ENST00000426324.6:c.401-3C>T | ENSP00000397007.2:n.401-3C>T | |
| ENST00000563655.5:c.451C>T | ENSP00000456012.1:p.Gln151Ter | |
| ENST00000567057.5:n.200-3C>T | ||
| ENST00000567391.5:c.*206C>T | ENSP00000457964.1:n.*206C>T | |
| ENST00000567713.5:c.322-174C>T | ENSP00000455749.1:n.322-174C>T | |
| ENST00000568319.5:c.*75-3C>T | ENSP00000456905.1:n.*75-3C>T | |
| ENST00000568575.1:n.461C>T | ||
| ENST00000569616.1:c.597C>T | ||
| NM_000485.2:c.532C>T | NP_000476.1:p.Gln178Ter | |
| NM_001030018.1:c.401-3C>T | NP_001025189.1:n.401-3C>T | |
| NM_000485.3:c.532C>T MANE Select | NP_000476.1:p.Gln178Ter | |
| NM_001030018.2:c.401-3C>T | NP_001025189.1:n.401-3C>T |