Linked Data
ClinVar Variation Id:
37358
dbSNP Id:
rs111033697
ExAC:
9:34647879 C / T
gnomAD v2:
9-34647879-C-T
gnomAD v3:
9-34647882-C-T
gnomAD v4:
9-34647882-C-T
PubMed:
PMID:9222760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647882C>T , CM000671.2:g.34647882C>T | GRCh38 |
| NC_000009.11:g.34647879C>T , CM000671.1:g.34647879C>T | GRCh37 |
| NC_000009.10:g.34637879C>T | NCBI36 |
| NG_009029.1:g.6245C>T | |
| NG_028966.1:g.698C>T | |
| NG_009029.2:g.6294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*16C>T | ENSP00000509954.1:n.*16C>T | |
| ENST00000378842.8:c.428C>T MANE Select | ENSP00000368119.4:p.Ser143Leu | |
| ENST00000378842.7:c.428C>T | ENSP00000368119.3:p.Ser143Leu | |
| ENST00000450095.6:c.101C>T | ENSP00000401956.2:p.Ser34Leu | |
| ENST00000465543.6:n.767C>T | ||
| ENST00000472111.5:n.684C>T | ||
| ENST00000473506.6:c.*16C>T | ENSP00000432839.2:n.*16C>T | |
| ENST00000473529.5:n.564C>T | ||
| ENST00000485531.1:n.869C>T | ||
| ENST00000487381.5:n.813C>T | ||
| ENST00000489643.6:n.283-233C>T | ||
| ENST00000554085.5:c.*172C>T | ENSP00000450419.1:n.*172C>T | |
| ENST00000554139.5:n.607C>T | ||
| ENST00000554550.5:c.*48C>T | ENSP00000451435.1:n.*48C>T | |
| ENST00000554638.5:n.900C>T | ||
| ENST00000554897.5:c.*48C>T | ENSP00000450942.1:n.*48C>T | |
| ENST00000554944.5:n.624C>T | ||
| ENST00000555020.5:n.584C>T | ||
| ENST00000555086.5:n.432C>T | ||
| ENST00000555214.5:n.262-166C>T | ||
| ENST00000556244.1:c.415C>T | ||
| ENST00000556278.1:c.253-233C>T | ENSP00000451792.1:n.253-233C>T | |
| ENST00000556494.5:n.549C>T | ||
| ENST00000557541.5:n.572C>T | ||
| ENST00000557706.5:n.990C>T | ||
| NM_000155.3:c.428C>T | NP_000146.2:p.Ser143Leu | |
| NM_001258332.1:c.101C>T | NP_001245261.1:p.Ser34Leu | |
| NM_000155.4:c.428C>T MANE Select | NP_000146.2:p.Ser143Leu | |
| NM_001258332.2:c.101C>T | NP_001245261.1:p.Ser34Leu |