Linked Data
ClinVar Variation Id:
25305
dbSNP Id:
rs111033794
ExAC:
9:34649476 C / T
gnomAD v2:
9-34649476-C-T
gnomAD v3:
9-34649479-C-T
gnomAD v4:
9-34649479-C-T
PubMed:
PMID:9222760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649479C>T , CM000671.2:g.34649479C>T | GRCh38 |
| NC_000009.11:g.34649476C>T , CM000671.1:g.34649476C>T | GRCh37 |
| NC_000009.10:g.34639476C>T | NCBI36 |
| NG_009029.1:g.7842C>T | |
| NG_028966.1:g.2295C>T | |
| NG_009029.2:g.7891C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*562C>T | ENSP00000509954.1:n.*562C>T | |
| ENST00000378842.8:c.974C>T MANE Select | ENSP00000368119.4:p.Pro325Leu | |
| ENST00000378842.7:c.974C>T | ENSP00000368119.3:p.Pro325Leu | |
| ENST00000450095.6:c.647C>T | ENSP00000401956.2:p.Pro216Leu | |
| ENST00000488412.2:n.558C>T | ||
| ENST00000489643.6:n.1382C>T | ||
| ENST00000554550.5:c.*594C>T | ENSP00000451435.1:n.*594C>T | |
| ENST00000554638.5:n.1446C>T | ||
| ENST00000555020.5:n.1763C>T | ||
| ENST00000555754.1:n.422C>T | ||
| ENST00000556278.1:c.432+1023C>T | ENSP00000451792.1:n.432+1023C>T | |
| ENST00000557706.5:n.1549C>T | ||
| NM_000155.3:c.974C>T | NP_000146.2:p.Pro325Leu | |
| NM_001258332.1:c.647C>T | NP_001245261.1:p.Pro216Leu | |
| NM_000155.4:c.974C>T MANE Select | NP_000146.2:p.Pro325Leu | |
| NM_001258332.2:c.647C>T | NP_001245261.1:p.Pro216Leu |