Linked Data
dbSNP Id:
rs770013950
ExAC:
1:43408902 G / C
gnomAD v2:
1-43408902-G-C
gnomAD v4:
1-42943231-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42943231G>C , CM000663.2:g.42943231G>C | GRCh38 |
| NC_000001.10:g.43408902G>C , CM000663.1:g.43408902G>C | GRCh37 |
| NC_000001.9:g.43181489G>C | NCBI36 |
| NG_008232.1:g.20946C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.109C>G MANE Select | ENSP00000416293.2:p.Gln37Glu | |
| ENST00000674765.1:c.109C>G | ENSP00000501811.1:p.Gln37Glu | |
| ENST00000675112.1:n.132C>G | ||
| ENST00000372500.4:c.19-12025C>G | ENSP00000361578.4:n.19-12025C>G | |
| ENST00000415851.6:n.326C>G | ||
| ENST00000426263.7:c.109C>G | ENSP00000416293.2:p.Gln37Glu | |
| ENST00000475162.3:c.8C>G | ||
| ENST00000625233.2:n.317C>G | ||
| ENST00000628173.1:n.328C>G | ||
| ENST00000630287.2:c.109C>G | ENSP00000486694.1:p.Gln37Glu | |
| ENST00000630821.1:n.326C>G | ||
| NM_006516.2:c.109C>G | NP_006507.2:p.Gln37Glu | |
| NM_006516.3:c.109C>G | NP_006507.2:p.Gln37Glu | |
| NM_006516.4:c.109C>G MANE Select | NP_006507.2:p.Gln37Glu |