Linked Data
ClinVar Variation Id:
2021128
ClinVar RCV Id:
RCV002862416
dbSNP Id:
rs762634587
ExAC:
22:38164133 C / G
gnomAD v2:
22-38164133-C-G
gnomAD v3:
22-37768126-C-G
gnomAD v4:
22-37768126-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37768126C>G , CM000684.2:g.37768126C>G | GRCh38 |
| NC_000022.10:g.38164133C>G , CM000684.1:g.38164133C>G | GRCh37 |
| NC_000022.9:g.36494079C>G | NCBI36 |
| NG_012857.1:g.76139C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.6525C>G MANE Select | ENSP00000496394.1:p.Ser2175Arg | |
| ENST00000344404.10:c.*6008C>G | ENSP00000340312.6:n.*6008C>G | |
| ENST00000403663.6:c.1386C>G | ENSP00000386026.2:p.Ser462Arg | |
| ENST00000406386.7:c.6525C>G | ENSP00000384312.3:p.Ser2175Arg | |
| NM_001039141.2:c.6525C>G | NP_001034230.1:p.Ser2175Arg | |
| NM_007032.5:c.1386C>G | NP_008963.3:p.Ser462Arg | |
| NM_001039141.3:c.6525C>G MANE Select | NP_001034230.1:p.Ser2175Arg |