Linked Data
ClinVar Variation Id:
542046
dbSNP Id:
rs147896952
ExAC:
2:32449672 G / C
gnomAD v2:
2-32449672-G-C
gnomAD v3:
2-32224603-G-C
gnomAD v4:
2-32224603-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32224603G>C , CM000664.2:g.32224603G>C | GRCh38 |
| NC_000002.11:g.32449672G>C , CM000664.1:g.32449672G>C | GRCh37 |
| NC_000002.10:g.32303176G>C | NCBI36 |
| NG_041780.1:g.46141C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.638C>G | ENSP00000498301.2:p.Ala213Gly | |
| ENST00000402280.6:c.2945C>G MANE Select | ENSP00000385428.1:p.Ala982Gly | |
| ENST00000404025.3:c.*651C>G | ENSP00000385090.3:n.*651C>G | |
| ENST00000652197.1:c.*675C>G | ENSP00000498301.1:n.*675C>G | |
| ENST00000342905.10:c.950C>G | ENSP00000339666.6:p.Ala317Gly | |
| ENST00000360906.9:c.2945C>G | ENSP00000354159.5:p.Ala982Gly | |
| ENST00000402280.5:c.2945C>G | ENSP00000385428.1:p.Ala982Gly | |
| ENST00000404025.2:c.2945C>G | ENSP00000385090.2:p.Ala982Gly | |
| NM_001199138.1:c.2945C>G | NP_001186067.1:p.Ala982Gly | |
| NM_001199139.1:c.2945C>G | NP_001186068.1:p.Ala982Gly | |
| NM_001302504.1:c.950C>G | NP_001289433.1:p.Ala317Gly | |
| NM_021209.4:c.2945C>G | NP_067032.3:p.Ala982Gly | |
| NM_001199138.2:c.2945C>G MANE Select | NP_001186067.1:p.Ala982Gly |