Linked Data
dbSNP Id:
rs755854159
ExAC:
6:31937486 C / G
gnomAD v2:
6-31937486-C-G
gnomAD v4:
6-31969709-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969709C>G , CM000668.2:g.31969709C>G | GRCh38 |
| NC_000006.11:g.31937486C>G , CM000668.1:g.31937486C>G | GRCh37 |
| NC_000006.10:g.32045465C>G | NCBI36 |
| NG_032652.1:g.15906C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2783C>G | ENSP00000419905.1:n.*2783C>G | |
| ENST00000485349.6:n.4211C>G | ||
| ENST00000491994.2:c.*277C>G | ENSP00000417586.2:n.*277C>G | |
| ENST00000494058.6:n.4037C>G | ||
| ENST00000697831.1:c.3666C>G | ENSP00000513453.1:p.Thr1222= | |
| ENST00000697832.1:n.3888C>G | ||
| ENST00000697834.1:n.4453C>G | ||
| ENST00000697835.1:c.*3253C>G | ENSP00000513455.1:n.*3253C>G | |
| ENST00000697837.1:c.*851C>G | ENSP00000513456.1:n.*851C>G | |
| ENST00000697838.1:c.3600C>G | ENSP00000513457.1:p.Thr1200= | |
| ENST00000697839.1:n.4547C>G | ||
| ENST00000697840.1:c.3771C>G | ENSP00000513458.1:p.Thr1257= | |
| ENST00000697841.1:n.4646C>G | ||
| ENST00000697842.1:n.3990C>G | ||
| ENST00000375394.7:c.3735C>G MANE Select | ENSP00000364543.2:p.Thr1245= | |
| ENST00000375394.6:c.3735C>G | ENSP00000364543.2:p.Thr1245= | |
| ENST00000465703.5:n.4465C>G | ||
| ENST00000471818.1:n.664C>G | ||
| ENST00000474839.5:c.*3107C>G | ENSP00000420470.1:n.*3107C>G | |
| ENST00000483553.5:c.1265C>G | ||
| ENST00000491994.1:c.824C>G | ||
| NM_006929.4:c.3735C>G | NP_008860.4:p.Thr1245= | |
| XR_926301.3:n.3751C>G | ||
| NM_006929.5:c.3735C>G MANE Select | NP_008860.4:p.Thr1245= |