Linked Data
ClinVar Variation Id:
540484
dbSNP Id:
rs200042949
ExAC:
10:97445336 T / C
gnomAD v2:
10-97445336-T-C
gnomAD v3:
10-95685579-T-C
gnomAD v4:
10-95685579-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95685579T>C , CM000672.2:g.95685579T>C | GRCh38 |
| NC_000010.10:g.97445336T>C , CM000672.1:g.97445336T>C | GRCh37 |
| NC_000010.9:g.97435326T>C | NCBI36 |
| NG_032953.1:g.13565A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371217.10:c.946A>G MANE Select | ENSP00000360261.5:p.Thr316Ala | |
| ENST00000614499.5:c.1000A>G | ENSP00000483364.2:p.Thr334Ala | |
| ENST00000679485.1:n.970A>G | ||
| ENST00000679566.1:c.853-955A>G | ENSP00000505964.1:n.853-955A>G | |
| ENST00000679984.1:c.*201A>G | ENSP00000504998.1:n.*201A>G | |
| ENST00000680144.1:c.888+916A>G | ENSP00000506398.1:n.888+916A>G | |
| ENST00000680353.1:c.946A>G | ENSP00000505367.1:p.Thr316Ala | |
| ENST00000680697.1:n.543-955A>G | ||
| ENST00000680709.1:c.709A>G | ENSP00000505830.1:p.Thr237Ala | |
| ENST00000681127.1:n.1857A>G | ||
| ENST00000681739.1:n.1001A>G | ||
| ENST00000681928.1:c.*130+1465A>G | ENSP00000505552.1:n.*130+1465A>G | |
| ENST00000265993.13:c.1000A>G | ENSP00000265993.9:p.Thr334Ala | |
| ENST00000371209.5:c.946A>G | ENSP00000360253.5:p.Thr316Ala | |
| ENST00000371217.9:c.946A>G | ENSP00000360261.5:p.Thr316Ala | |
| ENST00000430368.6:c.651+916A>G | ENSP00000387567.1:n.651+916A>G | |
| ENST00000614499.4:c.946A>G | ENSP00000483364.1:p.Thr316Ala | |
| NM_001143973.1:c.651+916A>G | NP_001137445.1:n.651+916A>G | |
| NM_015631.5:c.946A>G | NP_056446.4:p.Thr316Ala | |
| XM_005269690.1:c.942+916A>G | XP_005269747.1:n.942+916A>G | |
| XM_011539627.1:c.1000A>G | XP_011537929.1:p.Thr334Ala | |
| XM_011539628.1:c.1000A>G | XP_011537930.1:p.Thr334Ala | |
| XM_005269690.2:c.942+916A>G | XP_005269747.1:n.942+916A>G | |
| XM_011539627.2:c.1000A>G | XP_011537929.1:p.Thr334Ala | |
| XM_011539628.2:c.1000A>G | XP_011537930.1:p.Thr334Ala | |
| XM_024447935.1:c.942+916A>G | XP_024303703.1:n.942+916A>G | |
| NM_015631.6:c.946A>G MANE Select | NP_056446.4:p.Thr316Ala | |
| NM_001143973.2:c.651+916A>G | NP_001137445.1:n.651+916A>G |