Linked Data
ClinVar Variation Id:
2671765
ClinVar RCV Id:
RCV003448849
dbSNP Id:
rs1405745916
gnomAD v2:
16-88786041-A-C
gnomAD v3:
16-88719633-A-C
gnomAD v4:
16-88719633-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719633A>C , CM000678.2:g.88719633A>C | GRCh38 |
| NC_000016.9:g.88786041A>C , CM000678.1:g.88786041A>C | GRCh37 |
| NC_000016.8:g.87313542A>C | NCBI36 |
| NG_042229.1:g.70588T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6412T>G MANE Select | ENSP00000301015.9:p.Cys2138Gly | |
| ENST00000466823.3:c.438T>G | ||
| ENST00000301015.13:c.6412T>G | ENSP00000301015.9:p.Cys2138Gly | |
| ENST00000419505.5:c.178T>G | ENSP00000406358.1:p.Cys60Gly | |
| ENST00000466823.2:c.438T>G | ||
| ENST00000495568.7:n.653T>G | ||
| ENST00000497793.2:n.567T>G | ||
| NM_001142864.2:c.6412T>G | NP_001136336.2:p.Cys2138Gly | |
| NM_001142864.3:c.6412T>G | NP_001136336.2:p.Cys2138Gly | |
| NM_001142864.4:c.6412T>G MANE Select | NP_001136336.2:p.Cys2138Gly |