Linked Data
ClinVar Variation Id:
1438582
ClinVar RCV Id:
RCV001957888
dbSNP Id:
rs111033757
gnomAD v4:
9-34648819-T-C
PubMed:
PMID:10408771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648819T>C , CM000671.2:g.34648819T>C | GRCh38 |
| NC_000009.11:g.34648816T>C , CM000671.1:g.34648816T>C | GRCh37 |
| NC_000009.10:g.34638816T>C | NCBI36 |
| NG_009029.1:g.7182T>C | |
| NG_028966.1:g.1635T>C | |
| NG_009029.2:g.7231T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*333T>C | ENSP00000509954.1:n.*333T>C | |
| ENST00000378842.8:c.745T>C MANE Select | ENSP00000368119.4:p.Trp249Arg | |
| ENST00000378842.7:c.745T>C | ENSP00000368119.3:p.Trp249Arg | |
| ENST00000450095.6:c.418T>C | ENSP00000401956.2:p.Trp140Arg | |
| ENST00000473506.6:c.*333T>C | ENSP00000432839.2:n.*333T>C | |
| ENST00000473529.5:n.904T>C | ||
| ENST00000487381.5:n.1435T>C | ||
| ENST00000489643.6:n.825T>C | ||
| ENST00000554085.5:c.*489T>C | ENSP00000450419.1:n.*489T>C | |
| ENST00000554550.5:c.*365T>C | ENSP00000451435.1:n.*365T>C | |
| ENST00000554638.5:n.1217T>C | ||
| ENST00000555020.5:n.1206T>C | ||
| ENST00000555086.5:n.749T>C | ||
| ENST00000555754.1:n.90T>C | ||
| ENST00000556244.1:c.732T>C | ||
| ENST00000556278.1:c.432+363T>C | ENSP00000451792.1:n.432+363T>C | |
| ENST00000557706.5:n.1307T>C | ||
| NM_000155.3:c.745T>C | NP_000146.2:p.Trp249Arg | |
| NM_001258332.1:c.418T>C | NP_001245261.1:p.Trp140Arg | |
| NM_000155.4:c.745T>C MANE Select | NP_000146.2:p.Trp249Arg | |
| NM_001258332.2:c.418T>C | NP_001245261.1:p.Trp140Arg |