Linked Data
ClinVar Variation Id:
2071361
ClinVar RCV Id:
RCV002975521
dbSNP Id:
rs371013906
ExAC:
17:1657737 G / C
gnomAD v2:
17-1657737-G-C
gnomAD v3:
17-1754443-G-C
gnomAD v4:
17-1754443-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1754443G>C , CM000679.2:g.1754443G>C | GRCh38 |
| NC_000017.10:g.1657737G>C , CM000679.1:g.1657737G>C | GRCh37 |
| NC_000017.9:g.1604487G>C | NCBI36 |
| NG_013215.1:g.16608G>C , LRG_885:g.16608G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382061.5:c.1385G>C | ENSP00000371493.4:p.Gly462Ala | |
| ENST00000453066.6:c.1385G>C MANE Select | ENSP00000402286.2:p.Gly462Ala | |
| ENST00000324015.7:c.1385G>C | ENSP00000321853.3:p.Gly462Ala | |
| ENST00000382061.4:c.1385G>C | ENSP00000371493.4:p.Gly462Ala | |
| ENST00000450523.6:c.1193G>C | ENSP00000403877.2:p.Gly398Ala | |
| NM_000934.3:c.1385G>C , LRG_885t1:c.1385G>C | NP_000925.2:p.Gly462Ala | |
| NM_001165920.1:c.1385G>C | NP_001159392.1:p.Gly462Ala | |
| NM_001165921.1:c.1193G>C | NP_001159393.1:p.Gly398Ala | |
| XM_005256699.3:c.1490G>C | XP_005256756.1:p.Gly497Ala | |
| XM_005256700.3:c.1397G>C | XP_005256757.1:p.Gly466Ala | |
| XM_005256701.3:c.1433G>C | XP_005256758.2:p.Gly478Ala | |
| XM_005256703.3:c.1304G>C | XP_005256760.1:p.Gly435Ala | |
| XM_005256701.4:c.1433G>C | XP_005256758.2:p.Gly478Ala | |
| XM_017024765.1:c.1397G>C | XP_016880254.1:p.Gly466Ala | |
| XM_024450805.1:c.1397G>C | XP_024306573.1:p.Gly466Ala | |
| NM_000934.4:c.1385G>C MANE Select | NP_000925.2:p.Gly462Ala | |
| NM_001165921.2:c.1193G>C | NP_001159393.1:p.Gly398Ala |