Linked Data
ClinVar Variation Id:
25232
dbSNP Id:
rs111033744
gnomAD v4:
9-34648395-A-C
PubMed:
PMID:11261429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648395A>C , CM000671.2:g.34648395A>C | GRCh38 |
| NC_000009.11:g.34648392A>C , CM000671.1:g.34648392A>C | GRCh37 |
| NC_000009.10:g.34638392A>C | NCBI36 |
| NG_009029.1:g.6758A>C | |
| NG_028966.1:g.1211A>C | |
| NG_009029.2:g.6807A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*214A>C | ENSP00000509954.1:n.*214A>C | |
| ENST00000378842.8:c.626A>C MANE Select | ENSP00000368119.4:p.Tyr209Ser | |
| ENST00000378842.7:c.626A>C | ENSP00000368119.3:p.Tyr209Ser | |
| ENST00000450095.6:c.299A>C | ENSP00000401956.2:p.Tyr100Ser | |
| ENST00000472111.5:n.882A>C | ||
| ENST00000473506.6:c.*214A>C | ENSP00000432839.2:n.*214A>C | |
| ENST00000473529.5:n.785A>C | ||
| ENST00000487381.5:n.1011A>C | ||
| ENST00000489643.6:n.401A>C | ||
| ENST00000554085.5:c.*370A>C | ENSP00000450419.1:n.*370A>C | |
| ENST00000554550.5:c.*246A>C | ENSP00000451435.1:n.*246A>C | |
| ENST00000554638.5:n.1098A>C | ||
| ENST00000555020.5:n.782A>C | ||
| ENST00000555086.5:n.630A>C | ||
| ENST00000555214.5:n.447A>C | ||
| ENST00000556244.1:c.613A>C | ||
| ENST00000556278.1:c.371A>C | ENSP00000451792.1:p.Tyr124Ser | |
| ENST00000556494.5:n.747A>C | ||
| ENST00000557706.5:n.1188A>C | ||
| NM_000155.3:c.626A>C | NP_000146.2:p.Tyr209Ser | |
| NM_001258332.1:c.299A>C | NP_001245261.1:p.Tyr100Ser | |
| NM_000155.4:c.626A>C MANE Select | NP_000146.2:p.Tyr209Ser | |
| NM_001258332.2:c.299A>C | NP_001245261.1:p.Tyr100Ser |