Linked Data
ClinVar Variation Id:
289528
ClinVar RCV Id:
RCV000334381
dbSNP Id:
rs367874361
ExAC:
2:169801202 C / T
gnomAD v2:
2-169801202-C-T
gnomAD v3:
2-168944692-C-T
gnomAD v4:
2-168944692-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168944692C>T , CM000664.2:g.168944692C>T | GRCh38 |
| NC_000002.11:g.169801202C>T , CM000664.1:g.169801202C>T | GRCh37 |
| NC_000002.10:g.169509448C>T | NCBI36 |
| NG_007374.1:g.91632G>A | |
| NG_007374.2:g.91705G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649448.1:c.840G>A | ENSP00000497165.1:p.Gly280= | |
| ENST00000650372.1:c.2523G>A MANE Select | ENSP00000497931.1:p.Gly841= | |
| ENST00000263817.6:c.2523G>A | ENSP00000263817.6:p.Gly841= | |
| ENST00000439188.1:c.1212G>A | ENSP00000416058.1:n.1212G>A | |
| NM_003742.2:c.2523G>A | NP_003733.2:p.Gly841= | |
| XM_006712817.2:c.2565G>A | XP_006712880.1:p.Gly855= | |
| XM_011512077.1:c.2625G>A | XP_011510379.1:p.Gly875= | |
| XM_011512078.1:c.2625G>A | XP_011510380.1:p.Gly875= | |
| XM_011512079.1:c.2625G>A | XP_011510381.1:p.Gly875= | |
| XM_011512080.1:c.2625G>A | XP_011510382.1:p.Gly875= | |
| XM_011512081.1:c.849G>A | XP_011510383.1:p.Gly283= | |
| NM_003742.4:c.2523G>A MANE Select | NP_003733.2:p.Gly841= | |
| XM_006712817.3:c.2565G>A | XP_006712880.1:p.Gly855= | |
| XM_011512077.2:c.2625G>A | XP_011510379.1:p.Gly875= | |
| XM_011512078.2:c.2625G>A | XP_011510380.1:p.Gly875= | |
| XM_011512080.2:c.2625G>A | XP_011510382.1:p.Gly875= | |
| XM_011512081.2:c.849G>A | XP_011510383.1:p.Gly283= | |
| XM_017005165.1:c.2625G>A | XP_016860654.1:p.Gly875= | |
| XM_017005166.1:c.1854G>A | XP_016860655.1:p.Gly618= | |
| XM_017005167.1:c.1308G>A | XP_016860656.1:p.Gly436= |