Linked Data
ClinVar Variation Id:
1346893
ClinVar RCV Id:
RCV002032879
dbSNP Id:
rs1326449698
gnomAD v2:
1-160249354-C-T
gnomAD v4:
1-160279564-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160279564C>T , CM000663.2:g.160279564C>T | GRCh38 |
| NC_000001.10:g.160249354C>T , CM000663.1:g.160249354C>T | GRCh37 |
| NC_000001.9:g.158515978C>T | NCBI36 |
| NG_008637.1:g.10588G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.887G>A MANE Select | ENSP00000357051.5:p.Cys296Tyr | |
| ENST00000556710.6:c.*497+237G>A | ENSP00000451235.2:n.*497+237G>A | |
| ENST00000647676.1:c.114+237G>A | ENSP00000497162.1:n.114+237G>A | |
| ENST00000368072.9:c.887G>A | ENSP00000357051.5:p.Cys296Tyr | |
| ENST00000462644.5:c.*240G>A | ENSP00000435896.1:n.*240G>A | |
| ENST00000467711.5:n.58+237G>A | ||
| ENST00000472750.5:c.*654G>A | ENSP00000434633.1:n.*654G>A | |
| ENST00000485079.1:c.426+237G>A | ENSP00000450870.1:n.426+237G>A | |
| ENST00000495624.1:c.565G>A | ||
| ENST00000532508.5:n.969G>A | ||
| ENST00000532643.5:c.*240G>A | ENSP00000435915.1:n.*240G>A | |
| ENST00000556710.5:c.375+237G>A | ENSP00000451235.1:n.375+237G>A | |
| NM_001193644.1:c.835G>A | NP_001180573.1:p.Val279Ile | |
| NM_002857.3:c.887G>A | NP_002848.1:p.Cys296Tyr | |
| NR_036492.1:n.804G>A | ||
| NR_036493.1:n.828G>A | ||
| NM_002857.4:c.887G>A MANE Select | NP_002848.1:p.Cys296Tyr | |
| NR_036492.2:n.786G>A | ||
| NR_036493.2:n.810G>A |