Linked Data
ClinVar Variation Id:
2056971
ClinVar RCV Id:
RCV002923111
dbSNP Id:
rs150810804
ExAC:
10:27405269 G / C
gnomAD v2:
10-27405269-G-C
gnomAD v3:
10-27116340-G-C
gnomAD v4:
10-27116340-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27116340G>C , CM000672.2:g.27116340G>C | GRCh38 |
| NC_000010.10:g.27405269G>C , CM000672.1:g.27405269G>C | GRCh37 |
| NC_000010.9:g.27445275G>C | NCBI36 |
| NG_047122.1:g.43939C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376016.8:c.1725C>G MANE Select | ENSP00000365184.3:p.Ser575= | |
| ENST00000326799.7:c.1896C>G | ENSP00000318480.3:p.Ser632= | |
| ENST00000375972.7:c.1896C>G | ENSP00000365139.4:p.Ser632= | |
| ENST00000376016.7:c.1725C>G | ENSP00000365184.3:p.Ser575= | |
| ENST00000613434.4:c.1626C>G | ENSP00000481724.1:p.Ser542= | |
| NM_001253866.1:c.1626C>G | NP_001240795.1:p.Ser542= | |
| NM_014263.3:c.1725C>G | NP_055078.1:p.Ser575= | |
| NM_139312.2:c.1896C>G | NP_647473.1:p.Ser632= | |
| XM_011519300.1:c.1797C>G | XP_011517602.1:p.Ser599= | |
| XM_011519300.3:c.1797C>G | XP_011517602.1:p.Ser599= | |
| NM_014263.4:c.1725C>G MANE Select | NP_055078.1:p.Ser575= | |
| NM_139312.3:c.1896C>G | NP_647473.1:p.Ser632= | |
| NM_001253866.2:c.1626C>G | NP_001240795.1:p.Ser542= |