Linked Data
ClinVar Variation Id:
25246
dbSNP Id:
rs111033749
gnomAD v2:
9-34648762-C-T
gnomAD v4:
9-34648765-C-T
COSMIC:
COSM3907042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648765C>T , CM000671.2:g.34648765C>T | GRCh38 |
| NC_000009.11:g.34648762C>T , CM000671.1:g.34648762C>T | GRCh37 |
| NC_000009.10:g.34638762C>T | NCBI36 |
| NG_009029.1:g.7128C>T | |
| NG_028966.1:g.1581C>T | |
| NG_009029.2:g.7177C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*279C>T | ENSP00000509954.1:n.*279C>T | |
| ENST00000378842.8:c.691C>T MANE Select | ENSP00000368119.4:p.Arg231Cys | |
| ENST00000378842.7:c.691C>T | ENSP00000368119.3:p.Arg231Cys | |
| ENST00000450095.6:c.364C>T | ENSP00000401956.2:p.Arg122Cys | |
| ENST00000473506.6:c.*279C>T | ENSP00000432839.2:n.*279C>T | |
| ENST00000473529.5:n.850C>T | ||
| ENST00000487381.5:n.1381C>T | ||
| ENST00000489643.6:n.771C>T | ||
| ENST00000554085.5:c.*435C>T | ENSP00000450419.1:n.*435C>T | |
| ENST00000554550.5:c.*311C>T | ENSP00000451435.1:n.*311C>T | |
| ENST00000554638.5:n.1163C>T | ||
| ENST00000555020.5:n.1152C>T | ||
| ENST00000555086.5:n.695C>T | ||
| ENST00000555754.1:n.36C>T | ||
| ENST00000556244.1:c.678C>T | ||
| ENST00000556278.1:c.432+309C>T | ENSP00000451792.1:n.432+309C>T | |
| ENST00000557706.5:n.1253C>T | ||
| NM_000155.3:c.691C>T | NP_000146.2:p.Arg231Cys | |
| NM_001258332.1:c.364C>T | NP_001245261.1:p.Arg122Cys | |
| NM_000155.4:c.691C>T MANE Select | NP_000146.2:p.Arg231Cys | |
| NM_001258332.2:c.364C>T | NP_001245261.1:p.Arg122Cys |