Linked Data
ClinVar Variation Id:
437996
ClinVar RCV Id:
RCV000504845
dbSNP Id:
rs746238212
ExAC:
2:112777089 C / G
gnomAD v2:
2-112777089-C-G
gnomAD v4:
2-112019512-C-G
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112019512C>G , CM000664.2:g.112019512C>G | GRCh38 |
| NC_000002.11:g.112777089C>G , CM000664.1:g.112777089C>G | GRCh37 |
| NC_000002.10:g.112493560C>G | NCBI36 |
| NG_011607.1:g.125899C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.2179C>G MANE Select | ENSP00000295408.4:p.Arg727Gly | |
| ENST00000295408.8:c.2179C>G | ENSP00000295408.4:p.Arg727Gly | |
| ENST00000409780.5:c.1651C>G | ENSP00000387277.1:p.Arg551Gly | |
| ENST00000421804.6:c.2179C>G | ENSP00000389152.2:p.Arg727Gly | |
| ENST00000439966.5:c.*1652C>G | ENSP00000402129.1:n.*1652C>G | |
| ENST00000449344.2:c.100C>G | ENSP00000412660.2:p.Arg34Gly | |
| ENST00000616902.4:c.1135C>G | ENSP00000482824.1:p.Arg379Gly | |
| NM_006343.2:c.2179C>G | NP_006334.2:p.Arg727Gly | |
| XM_005263565.3:c.2179C>G | XP_005263622.1:p.Arg727Gly | |
| XM_005263568.3:c.2179C>G | XP_005263625.1:p.Arg727Gly | |
| XM_011510490.1:c.1990C>G | XP_011508792.1:p.Arg664Gly | |
| XM_011510491.1:c.964C>G | XP_011508793.1:p.Arg322Gly | |
| XM_005263565.4:c.2179C>G | XP_005263622.1:p.Arg727Gly | |
| XM_005263568.4:c.2179C>G | XP_005263625.1:p.Arg727Gly | |
| XM_011510490.3:c.1990C>G | XP_011508792.1:p.Arg664Gly | |
| XM_017003164.1:c.1990C>G | XP_016858653.1:p.Arg664Gly | |
| XM_017003165.2:c.964C>G | XP_016858654.1:p.Arg322Gly | |
| NM_006343.3:c.2179C>G MANE Select | NP_006334.2:p.Arg727Gly |