Linked Data
dbSNP Id:
rs754512168
ExAC:
6:31937505 A / G
gnomAD v2:
6-31937505-A-G
gnomAD v3:
6-31969728-A-G
gnomAD v4:
6-31969728-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969728A>G , CM000668.2:g.31969728A>G | GRCh38 |
| NC_000006.11:g.31937505A>G , CM000668.1:g.31937505A>G | GRCh37 |
| NC_000006.10:g.32045484A>G | NCBI36 |
| NG_032652.1:g.15925A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2802A>G | ENSP00000419905.1:n.*2802A>G | |
| ENST00000494058.6:n.4056A>G | ||
| ENST00000697831.1:c.*13A>G | ENSP00000513453.1:n.*13A>G | |
| ENST00000697832.1:n.3907A>G | ||
| ENST00000697835.1:c.*3272A>G | ENSP00000513455.1:n.*3272A>G | |
| ENST00000697837.1:c.*870A>G | ENSP00000513456.1:n.*870A>G | |
| ENST00000697838.1:c.*13A>G | ENSP00000513457.1:n.*13A>G | |
| ENST00000697840.1:c.*13A>G | ENSP00000513458.1:n.*13A>G | |
| ENST00000697841.1:n.4665A>G | ||
| ENST00000697842.1:n.4009A>G | ||
| ENST00000375394.7:c.*13A>G MANE Select | ENSP00000364543.2:n.*13A>G | |
| ENST00000375394.6:c.*13A>G | ENSP00000364543.2:n.*13A>G | |
| ENST00000465703.5:n.4484A>G | ||
| ENST00000471818.1:n.683A>G | ||
| ENST00000474839.5:c.*3126A>G | ENSP00000420470.1:n.*3126A>G | |
| ENST00000483553.5:c.1284A>G | ||
| ENST00000491994.1:c.843A>G | ||
| NM_006929.4:c.*13A>G | NP_008860.4:n.*13A>G | |
| XR_926301.3:n.3770A>G | ||
| NM_006929.5:c.*13A>G MANE Select | NP_008860.4:n.*13A>G |