Linked Data
dbSNP Id:
rs1263295962
gnomAD v2:
6-31937189-C-T
gnomAD v3:
6-31969412-C-T
gnomAD v4:
6-31969412-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969412C>T , CM000668.2:g.31969412C>T | GRCh38 |
| NC_000006.11:g.31937189C>T , CM000668.1:g.31937189C>T | GRCh37 |
| NC_000006.10:g.32045168C>T | NCBI36 |
| NG_032652.1:g.15609C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2486C>T | ENSP00000419905.1:n.*2486C>T | |
| ENST00000483553.6:c.*499C>T | ENSP00000420332.2:n.*499C>T | |
| ENST00000485349.6:n.4008C>T | ||
| ENST00000491994.2:c.3532C>T | ENSP00000417586.2:p.Arg1178Trp | |
| ENST00000494058.6:n.3834C>T | ||
| ENST00000697831.1:c.3463C>T | ENSP00000513453.1:p.Arg1155Trp | |
| ENST00000697832.1:n.3685C>T | ||
| ENST00000697833.1:c.*480C>T | ENSP00000513454.1:n.*480C>T | |
| ENST00000697834.1:n.4156C>T | ||
| ENST00000697835.1:c.*3050C>T | ENSP00000513455.1:n.*3050C>T | |
| ENST00000697836.1:n.3863C>T | ||
| ENST00000697837.1:c.*648C>T | ENSP00000513456.1:n.*648C>T | |
| ENST00000697838.1:c.3397C>T | ENSP00000513457.1:p.Arg1133Trp | |
| ENST00000697839.1:n.4250C>T | ||
| ENST00000697840.1:c.3568C>T | ENSP00000513458.1:p.Arg1190Trp | |
| ENST00000697841.1:n.4349C>T | ||
| ENST00000697842.1:n.3787C>T | ||
| ENST00000375394.7:c.3532C>T MANE Select | ENSP00000364543.2:p.Arg1178Trp | |
| ENST00000375394.6:c.3532C>T | ENSP00000364543.2:p.Arg1178Trp | |
| ENST00000465703.5:n.4168C>T | ||
| ENST00000470453.1:n.382+96C>T | ||
| ENST00000471818.1:n.461C>T | ||
| ENST00000474839.5:c.*2904C>T | ENSP00000420470.1:n.*2904C>T | |
| ENST00000483553.5:c.968C>T | ||
| ENST00000491994.1:c.527C>T | ||
| NM_006929.4:c.3532C>T | NP_008860.4:p.Arg1178Trp | |
| XR_001743586.2:n.3631C>T | ||
| XR_926301.3:n.3548C>T | ||
| NM_006929.5:c.3532C>T MANE Select | NP_008860.4:p.Arg1178Trp |