Linked Data
ClinVar Variation Id:
206048
dbSNP Id:
rs374709255
ExAC:
4:39469166 A / G
gnomAD v2:
4-39469166-A-G
gnomAD v3:
4-39467546-A-G
gnomAD v4:
4-39467546-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39467546A>G , CM000666.2:g.39467546A>G | GRCh38 |
| NC_000004.11:g.39469166A>G , CM000666.1:g.39469166A>G | GRCh37 |
| NC_000004.10:g.39145561A>G | NCBI36 |
| NG_032111.1:g.13502A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261434.8:c.328A>G | ENSP00000261434.4:p.Thr110Ala | |
| ENST00000340169.7:c.637A>G | ENSP00000340676.2:p.Thr213Ala | |
| ENST00000381846.2:c.608+2204A>G | ENSP00000371270.1:n.608+2204A>G | |
| ENST00000513731.6:c.247A>G | ENSP00000425580.1:p.Thr83Ala | |
| ENST00000638422.1:c.637A>G | ENSP00000491001.1:p.Thr213Ala | |
| ENST00000638430.1:c.334A>G | ||
| ENST00000638451.1:c.300-2473A>G | ENSP00000491681.1:n.300-2473A>G | |
| ENST00000638816.1:c.351A>G | ENSP00000492482.1:n.351A>G | |
| ENST00000639422.1:c.422A>G | ENSP00000491899.1:p.Tyr141Cys | |
| ENST00000640349.1:c.523A>G | ENSP00000491477.1:p.Thr175Ala | |
| ENST00000640381.1:n.697A>G | ||
| ENST00000640672.1:c.368+2204A>G | ENSP00000492203.1:n.368+2204A>G | |
| ENST00000640689.1:c.*240A>G | ENSP00000491591.1:n.*240A>G | |
| ENST00000640888.2:c.637A>G MANE Select | ENSP00000492260.1:p.Thr213Ala | |
| ENST00000261434.7:c.637A>G | ENSP00000261434.3:p.Thr213Ala | |
| ENST00000340169.6:c.637A>G | ENSP00000340676.2:p.Thr213Ala | |
| ENST00000381846.1:c.608+2204A>G | ENSP00000371270.1:n.608+2204A>G | |
| ENST00000513731.5:c.247A>G | ENSP00000425580.1:p.Thr83Ala | |
| NM_001278590.1:c.608+2204A>G | NP_001265519.1:n.608+2204A>G | |
| NM_006859.3:c.637A>G | NP_006850.2:p.Thr213Ala | |
| NM_194451.2:c.637A>G | NP_919433.1:p.Thr213Ala | |
| XM_006713990.2:c.300-2473A>G | XP_006714053.1:n.300-2473A>G | |
| NM_001363700.1:c.328A>G | NP_001350629.1:p.Thr110Ala | |
| XM_006713990.3:c.300-2473A>G | XP_006714053.1:n.300-2473A>G | |
| XM_017007665.2:c.608+2204A>G | XP_016863154.1:n.608+2204A>G | |
| XR_001741096.2:n.725A>G | ||
| NM_001278590.2:c.608+2204A>G | NP_001265519.1:n.608+2204A>G | |
| NM_001363700.2:c.328A>G | NP_001350629.1:p.Thr110Ala | |
| NM_006859.4:c.637A>G MANE Select | NP_006850.2:p.Thr213Ala | |
| NM_194451.3:c.637A>G | NP_919433.1:p.Thr213Ala |