Linked Data
ClinVar Variation Id:
1489839
ClinVar RCV Id:
RCV001978417
dbSNP Id:
rs762135217
gnomAD v2:
6-31937190-G-A
gnomAD v3:
6-31969413-G-A
gnomAD v4:
6-31969413-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969413G>A , CM000668.2:g.31969413G>A | GRCh38 |
| NC_000006.11:g.31937190G>A , CM000668.1:g.31937190G>A | GRCh37 |
| NC_000006.10:g.32045169G>A | NCBI36 |
| NG_032652.1:g.15610G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2487G>A | ENSP00000419905.1:n.*2487G>A | |
| ENST00000483553.6:c.*500G>A | ENSP00000420332.2:n.*500G>A | |
| ENST00000485349.6:n.4009G>A | ||
| ENST00000491994.2:c.3533G>A | ENSP00000417586.2:p.Arg1178Gln | |
| ENST00000494058.6:n.3835G>A | ||
| ENST00000697831.1:c.3464G>A | ENSP00000513453.1:p.Arg1155Gln | |
| ENST00000697832.1:n.3686G>A | ||
| ENST00000697833.1:c.*481G>A | ENSP00000513454.1:n.*481G>A | |
| ENST00000697834.1:n.4157G>A | ||
| ENST00000697835.1:c.*3051G>A | ENSP00000513455.1:n.*3051G>A | |
| ENST00000697836.1:n.3864G>A | ||
| ENST00000697837.1:c.*649G>A | ENSP00000513456.1:n.*649G>A | |
| ENST00000697838.1:c.3398G>A | ENSP00000513457.1:p.Arg1133Gln | |
| ENST00000697839.1:n.4251G>A | ||
| ENST00000697840.1:c.3569G>A | ENSP00000513458.1:p.Arg1190Gln | |
| ENST00000697841.1:n.4350G>A | ||
| ENST00000697842.1:n.3788G>A | ||
| ENST00000375394.7:c.3533G>A MANE Select | ENSP00000364543.2:p.Arg1178Gln | |
| ENST00000375394.6:c.3533G>A | ENSP00000364543.2:p.Arg1178Gln | |
| ENST00000465703.5:n.4169G>A | ||
| ENST00000470453.1:n.382+97G>A | ||
| ENST00000471818.1:n.462G>A | ||
| ENST00000474839.5:c.*2905G>A | ENSP00000420470.1:n.*2905G>A | |
| ENST00000483553.5:c.969G>A | ||
| ENST00000491994.1:c.528G>A | ||
| NM_006929.4:c.3533G>A | NP_008860.4:p.Arg1178Gln | |
| XR_001743586.2:n.3632G>A | ||
| XR_926301.3:n.3549G>A | ||
| NM_006929.5:c.3533G>A MANE Select | NP_008860.4:p.Arg1178Gln |