Linked Data
dbSNP Id:
rs753425980
ExAC:
6:31937504 A / G
gnomAD v2:
6-31937504-A-G
gnomAD v4:
6-31969727-A-G
MyVariant Identifiers:
chr6:g.31937504A>G (hg19)
chr6:g.31937504_31937512delinsGAAAACATG (hg19)
chr6:g.31969727A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969727A>G , CM000668.2:g.31969727A>G | GRCh38 |
| NC_000006.11:g.31937504A>G , CM000668.1:g.31937504A>G | GRCh37 |
| NC_000006.10:g.32045483A>G | NCBI36 |
| NG_032652.1:g.15924A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2801A>G | ENSP00000419905.1:n.*2801A>G | |
| ENST00000494058.6:n.4055A>G | ||
| ENST00000697831.1:c.*12A>G | ENSP00000513453.1:n.*12A>G | |
| ENST00000697832.1:n.3906A>G | ||
| ENST00000697835.1:c.*3271A>G | ENSP00000513455.1:n.*3271A>G | |
| ENST00000697837.1:c.*869A>G | ENSP00000513456.1:n.*869A>G | |
| ENST00000697838.1:c.*12A>G | ENSP00000513457.1:n.*12A>G | |
| ENST00000697840.1:c.*12A>G | ENSP00000513458.1:n.*12A>G | |
| ENST00000697841.1:n.4664A>G | ||
| ENST00000697842.1:n.4008A>G | ||
| ENST00000375394.7:c.*12A>G MANE Select | ENSP00000364543.2:n.*12A>G | |
| ENST00000375394.6:c.*12A>G | ENSP00000364543.2:n.*12A>G | |
| ENST00000465703.5:n.4483A>G | ||
| ENST00000471818.1:n.682A>G | ||
| ENST00000474839.5:c.*3125A>G | ENSP00000420470.1:n.*3125A>G | |
| ENST00000483553.5:c.1283A>G | ||
| ENST00000491994.1:c.842A>G | ||
| NM_006929.4:c.*12A>G | NP_008860.4:n.*12A>G | |
| XR_926301.3:n.3769A>G | ||
| NM_006929.5:c.*12A>G MANE Select | NP_008860.4:n.*12A>G |