Linked Data
dbSNP Id:
rs566544171
ExAC:
6:31937318 A / G
gnomAD v2:
6-31937318-A-G
gnomAD v3:
6-31969541-A-G
gnomAD v4:
6-31969541-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969541A>G , CM000668.2:g.31969541A>G | GRCh38 |
| NC_000006.11:g.31937318A>G , CM000668.1:g.31937318A>G | GRCh37 |
| NC_000006.10:g.32045297A>G | NCBI36 |
| NG_032652.1:g.15738A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2615A>G | ENSP00000419905.1:n.*2615A>G | |
| ENST00000485349.6:n.4043A>G | ||
| ENST00000491994.2:c.*109A>G | ENSP00000417586.2:n.*109A>G | |
| ENST00000494058.6:n.3869A>G | ||
| ENST00000697831.1:c.3498A>G | ENSP00000513453.1:p.Ser1166= | |
| ENST00000697832.1:n.3720A>G | ||
| ENST00000697833.1:c.*515A>G | ENSP00000513454.1:n.*515A>G | |
| ENST00000697834.1:n.4285A>G | ||
| ENST00000697835.1:c.*3085A>G | ENSP00000513455.1:n.*3085A>G | |
| ENST00000697836.1:n.3921A>G | ||
| ENST00000697837.1:c.*683A>G | ENSP00000513456.1:n.*683A>G | |
| ENST00000697838.1:c.3432A>G | ENSP00000513457.1:p.Ser1144= | |
| ENST00000697839.1:n.4379A>G | ||
| ENST00000697840.1:c.3603A>G | ENSP00000513458.1:p.Ser1201= | |
| ENST00000697841.1:n.4478A>G | ||
| ENST00000697842.1:n.3822A>G | ||
| ENST00000375394.7:c.3567A>G MANE Select | ENSP00000364543.2:p.Ser1189= | |
| ENST00000375394.6:c.3567A>G | ENSP00000364543.2:p.Ser1189= | |
| ENST00000465703.5:n.4297A>G | ||
| ENST00000470453.1:n.409A>G | ||
| ENST00000471818.1:n.496A>G | ||
| ENST00000474839.5:c.*2939A>G | ENSP00000420470.1:n.*2939A>G | |
| ENST00000483553.5:c.1097A>G | ||
| ENST00000491994.1:c.656A>G | ||
| NM_006929.4:c.3567A>G | NP_008860.4:p.Ser1189= | |
| XR_926301.3:n.3583A>G | ||
| NM_006929.5:c.3567A>G MANE Select | NP_008860.4:p.Ser1189= |