Linked Data
ClinVar Variation Id:
25132
ClinVar RCV Id:
RCV001851992
dbSNP Id:
rs111033652
gnomAD v4:
9-34647140-C-T
PubMed:
PMID:10399107
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647140C>T , CM000671.2:g.34647140C>T | GRCh38 |
| NC_000009.11:g.34647137C>T , CM000671.1:g.34647137C>T | GRCh37 |
| NC_000009.10:g.34637137C>T | NCBI36 |
| NG_009029.1:g.5503C>T | |
| NG_009029.2:g.5552C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.134C>T | ENSP00000509954.1:p.Ser45Leu | |
| ENST00000378842.8:c.134C>T MANE Select | ENSP00000368119.4:p.Ser45Leu | |
| ENST00000378842.7:c.134C>T | ENSP00000368119.3:p.Ser45Leu | |
| ENST00000450095.6:c.-69C>T | ENSP00000401956.2:n.-69C>T | |
| ENST00000465543.6:n.473C>T | ||
| ENST00000468099.2:n.174C>T | ||
| ENST00000472111.5:n.175C>T | ||
| ENST00000473506.6:c.134C>T | ENSP00000432839.2:p.Ser45Leu | |
| ENST00000473529.5:n.181C>T | ||
| ENST00000485531.1:n.127C>T | ||
| ENST00000487381.5:n.160C>T | ||
| ENST00000489643.6:n.164C>T | ||
| ENST00000554085.5:c.134C>T | ENSP00000450419.1:p.Ser45Leu | |
| ENST00000554139.5:n.187C>T | ||
| ENST00000554330.5:n.131C>T | ||
| ENST00000554550.5:c.134C>T | ENSP00000451435.1:p.Ser45Leu | |
| ENST00000554638.5:n.158C>T | ||
| ENST00000554897.5:c.134C>T | ENSP00000450942.1:p.Ser45Leu | |
| ENST00000554944.5:n.164C>T | ||
| ENST00000555020.5:n.164C>T | ||
| ENST00000555086.5:n.138C>T | ||
| ENST00000555214.5:n.143C>T | ||
| ENST00000556157.1:n.241C>T | ||
| ENST00000556244.1:c.18C>T | ||
| ENST00000556278.1:c.134C>T | ENSP00000451792.1:p.Ser45Leu | |
| ENST00000556403.5:n.147C>T | ||
| ENST00000556494.5:n.166C>T | ||
| ENST00000557541.5:n.327C>T | ||
| ENST00000557706.5:n.248C>T | ||
| ENST00000605275.1:n.672C>T | ||
| NM_000155.3:c.134C>T | NP_000146.2:p.Ser45Leu | |
| NM_001258332.1:c.-69C>T | NP_001245261.1:n.-69C>T | |
| NM_000155.4:c.134C>T MANE Select | NP_000146.2:p.Ser45Leu | |
| NM_001258332.2:c.-69C>T | NP_001245261.1:n.-69C>T |