Linked Data
ClinVar Variation Id:
2623875
ClinVar RCV Id:
RCV003377300
dbSNP Id:
rs767459678
ExAC:
1:231401113 G / A
gnomAD v2:
1-231401113-G-A
gnomAD v3:
1-231265367-G-A
gnomAD v4:
1-231265367-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231265367G>A , CM000663.2:g.231265367G>A | GRCh38 |
| NC_000001.10:g.231401113G>A , CM000663.1:g.231401113G>A | GRCh37 |
| NC_000001.9:g.229467736G>A | NCBI36 |
| NG_008240.1:g.29195G>A | |
| NG_008240.2:g.29195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.643G>A MANE Select | ENSP00000355607.4:p.Gly215Ser | |
| ENST00000644483.1:c.*329G>A | ENSP00000496537.1:n.*329G>A | |
| ENST00000366647.8:c.643G>A | ENSP00000355607.4:p.Gly215Ser | |
| ENST00000416000.1:c.613G>A | ENSP00000411640.1:p.Gly205Ser | |
| ENST00000436239.5:c.460G>A | ENSP00000402811.1:p.Gly154Ser | |
| NM_001316350.1:c.460G>A | NP_001303279.1:p.Gly154Ser | |
| NM_014236.3:c.643G>A | NP_055051.1:p.Gly215Ser | |
| XM_005273313.3:c.640G>A | XP_005273370.1:p.Gly214Ser | |
| XM_011544303.1:c.316G>A | XP_011542605.1:p.Gly106Ser | |
| XM_011544304.1:c.316G>A | XP_011542606.1:p.Gly106Ser | |
| XM_005273313.4:c.640G>A | XP_005273370.1:p.Gly214Ser | |
| XM_011544303.3:c.316G>A | XP_011542605.1:p.Gly106Ser | |
| XM_011544304.2:c.316G>A | XP_011542606.1:p.Gly106Ser | |
| NM_014236.4:c.643G>A MANE Select | NP_055051.1:p.Gly215Ser | |
| NM_001316350.2:c.460G>A | NP_001303279.1:p.Gly154Ser |