Linked Data
ClinVar Variation Id:
25236
ClinVar RCV Id:
RCV000022172
dbSNP Id:
rs111033741
PubMed:
PMID:10408771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648419T>C , CM000671.2:g.34648419T>C | GRCh38 |
| NC_000009.11:g.34648416T>C , CM000671.1:g.34648416T>C | GRCh37 |
| NC_000009.10:g.34638416T>C | NCBI36 |
| NG_009029.1:g.6782T>C | |
| NG_028966.1:g.1235T>C | |
| NG_009029.2:g.6831T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*238T>C | ENSP00000509954.1:n.*238T>C | |
| ENST00000378842.8:c.650T>C MANE Select | ENSP00000368119.4:p.Leu217Pro | |
| ENST00000378842.7:c.650T>C | ENSP00000368119.3:p.Leu217Pro | |
| ENST00000450095.6:c.323T>C | ENSP00000401956.2:p.Leu108Pro | |
| ENST00000472111.5:n.906T>C | ||
| ENST00000473506.6:c.*238T>C | ENSP00000432839.2:n.*238T>C | |
| ENST00000473529.5:n.809T>C | ||
| ENST00000487381.5:n.1035T>C | ||
| ENST00000489643.6:n.425T>C | ||
| ENST00000554085.5:c.*394T>C | ENSP00000450419.1:n.*394T>C | |
| ENST00000554550.5:c.*270T>C | ENSP00000451435.1:n.*270T>C | |
| ENST00000554638.5:n.1122T>C | ||
| ENST00000555020.5:n.806T>C | ||
| ENST00000555086.5:n.654T>C | ||
| ENST00000555214.5:n.471T>C | ||
| ENST00000556244.1:c.637T>C | ||
| ENST00000556278.1:c.395T>C | ENSP00000451792.1:p.Leu132Pro | |
| ENST00000556494.5:n.771T>C | ||
| ENST00000557706.5:n.1212T>C | ||
| NM_000155.3:c.650T>C | NP_000146.2:p.Leu217Pro | |
| NM_001258332.1:c.323T>C | NP_001245261.1:p.Leu108Pro | |
| NM_000155.4:c.650T>C MANE Select | NP_000146.2:p.Leu217Pro | |
| NM_001258332.2:c.323T>C | NP_001245261.1:p.Leu108Pro |