Linked Data
ClinVar Variation Id:
2931610
ClinVar RCV Id:
RCV003792632
dbSNP Id:
rs867207553
gnomAD v2:
3-38888541-T-C
gnomAD v4:
3-38847050-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38847050T>C , CM000665.2:g.38847050T>C | GRCh38 |
| NC_000003.11:g.38888541T>C , CM000665.1:g.38888541T>C | GRCh37 |
| NC_000003.10:g.38863545T>C | NCBI36 |
| NG_033859.1:g.108512A>G | |
| NG_033859.2:g.209937A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302328.9:c.5020A>G MANE Select | ENSP00000307599.3:p.Met1674Val | |
| ENST00000668754.1:c.5020A>G | ENSP00000499569.1:p.Met1674Val | |
| ENST00000675223.1:c.5099A>G | ENSP00000502481.1:n.5099A>G | |
| ENST00000675672.1:c.5074A>G | ENSP00000502446.1:n.5074A>G | |
| ENST00000675892.1:c.4840A>G | ENSP00000502318.1:p.Met1614Val | |
| ENST00000676045.1:c.5064A>G | ENSP00000501685.1:n.5064A>G | |
| ENST00000676176.1:c.4639A>G | ENSP00000501891.1:p.Met1547Val | |
| ENST00000302328.7:c.5020A>G | ENSP00000307599.3:p.Met1674Val | |
| ENST00000456224.7:c.4906A>G | ENSP00000416757.3:p.Met1636Val | |
| NM_001287223.1:c.5020A>G | NP_001274152.1:p.Met1674Val | |
| NM_014139.2:c.5020A>G | NP_054858.2:p.Met1674Val | |
| XM_011533320.1:c.5020A>G | XP_011531622.1:p.Met1674Val | |
| XM_011533321.1:c.4357A>G | XP_011531623.1:p.Met1453Val | |
| XM_011533322.1:c.3568A>G | XP_011531624.1:p.Met1190Val | |
| NM_001349253.1:c.5020A>G | NP_001336182.1:p.Met1674Val | |
| XM_011533321.2:c.4357A>G | XP_011531623.1:p.Met1453Val | |
| XM_017005647.1:c.5395A>G | XP_016861136.1:p.Met1799Val | |
| XM_017005648.1:c.4822A>G | XP_016861137.1:p.Met1608Val | |
| XM_017005650.1:c.5020A>G | XP_016861139.1:p.Met1674Val | |
| XM_017005651.1:c.4747A>G | XP_016861140.1:p.Met1583Val | |
| XM_017005653.1:c.3424A>G | XP_016861142.1:p.Met1142Val | |
| NM_001349253.2:c.5020A>G MANE Select | NP_001336182.1:p.Met1674Val | |
| NM_014139.3:c.5020A>G | NP_054858.2:p.Met1674Val |