Linked Data
dbSNP Id:
rs990088341
gnomAD v2:
6-31937531-A-G
gnomAD v3:
6-31969754-A-G
gnomAD v4:
6-31969754-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969754A>G , CM000668.2:g.31969754A>G | GRCh38 |
| NC_000006.11:g.31937531A>G , CM000668.1:g.31937531A>G | GRCh37 |
| NC_000006.10:g.32045510A>G | NCBI36 |
| NG_032652.1:g.15951A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2828A>G | ENSP00000419905.1:n.*2828A>G | |
| ENST00000697831.1:c.*39A>G | ENSP00000513453.1:n.*39A>G | |
| ENST00000697835.1:c.*3298A>G | ENSP00000513455.1:n.*3298A>G | |
| ENST00000697838.1:c.*39A>G | ENSP00000513457.1:n.*39A>G | |
| ENST00000375394.6:c.*39A>G | ENSP00000364543.2:n.*39A>G | |
| NM_006929.4:c.*39A>G | NP_008860.4:n.*39A>G | |
| XR_926301.3:n.3796A>G |