Linked Data
ClinVar Variation Id:
218683
ClinVar RCV Id:
RCV000202817
dbSNP Id:
rs11064480
ExAC:
12:7080187 C / G
gnomAD v2:
12-7080187-C-G
gnomAD v3:
12-6971024-C-G
gnomAD v4:
12-6971024-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6971024C>G , CM000674.2:g.6971024C>G | GRCh38 |
| NC_000012.11:g.7080187C>G , CM000674.1:g.7080187C>G | GRCh37 |
| NC_000012.10:g.6950448C>G | NCBI36 |
| NG_021408.1:g.5244C>G | |
| NG_021408.2:g.5244C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599672.6:c.101C>G MANE Select | ENSP00000470560.1:p.Ala34Gly | |
| ENST00000261406.7:c.83C>G | ENSP00000476966.2:p.Ala28Gly | |
| ENST00000599672.5:c.101C>G | ENSP00000470560.1:p.Ala34Gly | |
| ENST00000607161.5:c.104C>G | ENSP00000480420.1:p.Ala35Gly | |
| ENST00000611981.1:n.112C>G | ||
| ENST00000620255.1:n.90C>G | ||
| NM_006331.7:c.101C>G | NP_006322.4:p.Ala34Gly | |
| XM_011520907.1:c.101C>G | XP_011519209.1:p.Ala34Gly | |
| NM_001320049.1:c.101C>G | NP_001306978.1:p.Ala34Gly | |
| NR_135131.1:n.244C>G | ||
| NM_006331.8:c.101C>G MANE Select | NP_006322.4:p.Ala34Gly | |
| NM_001320049.2:c.101C>G | NP_001306978.1:p.Ala34Gly | |
| NR_135131.2:n.112C>G |