Linked Data
ClinVar Variation Id:
25325
ClinVar RCV Id:
RCV000022271
dbSNP Id:
rs111033818
gnomAD v4:
9-34649562-C-T
PubMed:
PMID:11261429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649562C>T , CM000671.2:g.34649562C>T | GRCh38 |
| NC_000009.11:g.34649559C>T , CM000671.1:g.34649559C>T | GRCh37 |
| NC_000009.10:g.34639559C>T | NCBI36 |
| NG_009029.1:g.7925C>T | |
| NG_028966.1:g.2378C>T | |
| NG_009029.2:g.7974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*645C>T | ENSP00000509954.1:n.*645C>T | |
| ENST00000378842.8:c.1057C>T MANE Select | ENSP00000368119.4:p.Gln353Ter | |
| ENST00000378842.7:c.1057C>T | ENSP00000368119.3:p.Gln353Ter | |
| ENST00000450095.6:c.730C>T | ENSP00000401956.2:p.Gln244Ter | |
| ENST00000488412.2:n.641C>T | ||
| ENST00000489643.6:n.1465C>T | ||
| ENST00000554550.5:c.*677C>T | ENSP00000451435.1:n.*677C>T | |
| ENST00000554638.5:n.1529C>T | ||
| ENST00000555020.5:n.1846C>T | ||
| ENST00000555754.1:n.505C>T | ||
| ENST00000556278.1:c.432+1106C>T | ENSP00000451792.1:n.432+1106C>T | |
| ENST00000557706.5:n.1632C>T | ||
| NM_000155.3:c.1057C>T | NP_000146.2:p.Gln353Ter | |
| NM_001258332.1:c.730C>T | NP_001245261.1:p.Gln244Ter | |
| NM_000155.4:c.1057C>T MANE Select | NP_000146.2:p.Gln353Ter | |
| NM_001258332.2:c.730C>T | NP_001245261.1:p.Gln244Ter |