Linked Data
ClinVar Variation Id:
25126
ClinVar RCV Id:
RCV000175533
dbSNP Id:
rs111033645
gnomAD v4:
9-34647113-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647113C>T , CM000671.2:g.34647113C>T | GRCh38 |
| NC_000009.11:g.34647110C>T , CM000671.1:g.34647110C>T | GRCh37 |
| NC_000009.10:g.34637110C>T | NCBI36 |
| NG_009029.1:g.5476C>T | |
| NG_009029.2:g.5525C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.107C>T | ENSP00000509954.1:p.Pro36Leu | |
| ENST00000378842.8:c.107C>T MANE Select | ENSP00000368119.4:p.Pro36Leu | |
| ENST00000378842.7:c.107C>T | ENSP00000368119.3:p.Pro36Leu | |
| ENST00000450095.6:c.-96C>T | ENSP00000401956.2:n.-96C>T | |
| ENST00000465543.6:n.446C>T | ||
| ENST00000468099.2:n.155-8C>T | ||
| ENST00000472111.5:n.148C>T | ||
| ENST00000473506.6:c.107C>T | ENSP00000432839.2:p.Pro36Leu | |
| ENST00000473529.5:n.154C>T | ||
| ENST00000485531.1:n.100C>T | ||
| ENST00000487381.5:n.133C>T | ||
| ENST00000489643.6:n.137C>T | ||
| ENST00000554085.5:c.107C>T | ENSP00000450419.1:p.Pro36Leu | |
| ENST00000554139.5:n.160C>T | ||
| ENST00000554330.5:n.104C>T | ||
| ENST00000554550.5:c.107C>T | ENSP00000451435.1:p.Pro36Leu | |
| ENST00000554638.5:n.131C>T | ||
| ENST00000554897.5:c.107C>T | ENSP00000450942.1:p.Pro36Leu | |
| ENST00000554944.5:n.137C>T | ||
| ENST00000555020.5:n.137C>T | ||
| ENST00000555086.5:n.111C>T | ||
| ENST00000555214.5:n.116C>T | ||
| ENST00000556157.1:n.214C>T | ||
| ENST00000556278.1:c.107C>T | ENSP00000451792.1:p.Pro36Leu | |
| ENST00000556403.5:n.120C>T | ||
| ENST00000556494.5:n.139C>T | ||
| ENST00000557541.5:n.300C>T | ||
| ENST00000557706.5:n.221C>T | ||
| ENST00000605275.1:n.645C>T | ||
| NM_000155.3:c.107C>T | NP_000146.2:p.Pro36Leu | |
| NM_001258332.1:c.-96C>T | NP_001245261.1:n.-96C>T | |
| NM_000155.4:c.107C>T MANE Select | NP_000146.2:p.Pro36Leu | |
| NM_001258332.2:c.-96C>T | NP_001245261.1:n.-96C>T |