Linked Data
ClinVar Variation Id:
189191
dbSNP Id:
rs786204763
gnomAD v2:
9-34648846-C-T
gnomAD v4:
9-34648849-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648849C>T , CM000671.2:g.34648849C>T | GRCh38 |
| NC_000009.11:g.34648846C>T , CM000671.1:g.34648846C>T | GRCh37 |
| NC_000009.10:g.34638846C>T | NCBI36 |
| NG_009029.1:g.7211C>T | |
| NG_028966.1:g.1665C>T | |
| NG_009029.2:g.7261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*363C>T | ENSP00000509954.1:n.*363C>T | |
| ENST00000378842.8:c.775C>T MANE Select | ENSP00000368119.4:p.Arg259Trp | |
| ENST00000378842.7:c.775C>T | ENSP00000368119.3:p.Arg259Trp | |
| ENST00000450095.6:c.448C>T | ENSP00000401956.2:p.Arg150Trp | |
| ENST00000473506.6:c.*363C>T | ENSP00000432839.2:n.*363C>T | |
| ENST00000489643.6:n.855C>T | ||
| ENST00000554085.5:c.*519C>T | ENSP00000450419.1:n.*519C>T | |
| ENST00000554550.5:c.*395C>T | ENSP00000451435.1:n.*395C>T | |
| ENST00000554638.5:n.1247C>T | ||
| ENST00000555020.5:n.1236C>T | ||
| ENST00000555086.5:n.779C>T | ||
| ENST00000555754.1:n.120C>T | ||
| ENST00000556244.1:c.762C>T | ||
| ENST00000556278.1:c.432+393C>T | ENSP00000451792.1:n.432+393C>T | |
| ENST00000557706.5:n.1337C>T | ||
| NM_000155.3:c.775C>T | NP_000146.2:p.Arg259Trp | |
| NM_001258332.1:c.448C>T | NP_001245261.1:p.Arg150Trp | |
| NM_000155.4:c.775C>T MANE Select | NP_000146.2:p.Arg259Trp | |
| NM_001258332.2:c.448C>T | NP_001245261.1:p.Arg150Trp |