Linked Data
dbSNP Id:
rs144149732
gnomAD v2:
6-29913501-C-T
gnomAD v3:
6-29945724-C-T
gnomAD v4:
6-29945724-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29945724C>T , CM000668.2:g.29945724C>T | GRCh38 |
| NC_000006.11:g.29913501C>T , CM000668.1:g.29913501C>T | GRCh37 |
| NC_000006.10:g.30021480C>T | NCBI36 |
| NG_029217.2:g.8260C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.1250C>T | ENSP00000492789.2:n.1250C>T | |
| ENST00000706893.1:c.*351C>T | ENSP00000516609.1:n.*351C>T | |
| ENST00000706894.1:c.*351C>T | ENSP00000516610.1:n.*351C>T | |
| ENST00000706895.1:n.2356C>T | ||
| ENST00000706896.1:n.2663C>T | ||
| ENST00000706897.1:n.2085C>T | ||
| ENST00000706898.1:c.*269C>T | ENSP00000516611.1:n.*269C>T | |
| ENST00000706899.1:n.2221C>T | ||
| ENST00000706900.1:c.*269C>T | ENSP00000516617.1:n.*269C>T | |
| ENST00000706901.1:c.*269C>T | ENSP00000516612.1:n.*269C>T | |
| ENST00000706902.1:c.1093+443C>T | ENSP00000516613.1:n.1093+443C>T | |
| ENST00000706903.1:c.*124+145C>T | ENSP00000516614.1:n.*124+145C>T | |
| ENST00000706904.1:c.1093+443C>T | ENSP00000516615.1:n.1093+443C>T | |
| ENST00000706905.1:c.*269C>T | ENSP00000516616.1:n.*269C>T | |
| ENST00000376809.10:c.*269C>T MANE Select | ENSP00000366005.5:n.*269C>T | |
| ENST00000376802.2:c.*269C>T | ENSP00000365998.2:n.*269C>T | |
| ENST00000376806.9:c.*269C>T | ENSP00000366002.5:n.*269C>T | |
| ENST00000376809.9:c.*269C>T | ENSP00000366005.5:n.*269C>T | |
| ENST00000396634.5:c.*269C>T | ENSP00000379873.1:n.*269C>T | |
| ENST00000495183.5:n.1606C>T | ||
| ENST00000496081.5:n.1626C>T | ||
| NM_002116.7:c.*269C>T | NP_002107.3:n.*269C>T | |
| NM_002116.8:c.*269C>T MANE Select | NP_002107.3:n.*269C>T |