Linked Data
ClinVar Variation Id:
403911
ClinVar RCV Id:
RCV000477346
dbSNP Id:
rs768646872
ExAC:
3:178937440 A / G
gnomAD v2:
3-178937440-A-G
gnomAD v3:
3-179219652-A-G
gnomAD v4:
3-179219652-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179219652A>G , CM000665.2:g.179219652A>G | GRCh38 |
| NC_000003.11:g.178937440A>G , CM000665.1:g.178937440A>G | GRCh37 |
| NC_000003.10:g.180420134A>G | NCBI36 |
| NG_012113.2:g.76130A>G , LRG_310:g.76130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1828A>G MANE Select | ENSP00000263967.3:p.Met610Val | |
| ENST00000462255.2:n.290A>G | ||
| ENST00000643187.1:c.1828A>G | ENSP00000493507.1:p.Met610Val | |
| ENST00000674534.1:n.2736A>G | ||
| ENST00000674622.1:c.249A>G | ENSP00000502417.1:n.249A>G | |
| ENST00000675467.1:n.4635A>G | ||
| ENST00000675786.1:c.*395A>G | ENSP00000502323.1:n.*395A>G | |
| ENST00000263967.3:c.1828A>G | ENSP00000263967.3:p.Met610Val | |
| ENST00000462255.1:n.102A>G | ||
| NM_006218.2:c.1828A>G , LRG_310t1:c.1828A>G | NP_006209.2:p.Met610Val | |
| XM_006713658.2:c.1828A>G | XP_006713721.1:p.Met610Val | |
| XM_011512894.1:c.1828A>G | XP_011511196.1:p.Met610Val | |
| NM_006218.3:c.1828A>G | NP_006209.2:p.Met610Val | |
| XM_006713658.4:c.1828A>G | XP_006713721.1:p.Met610Val | |
| XM_011512894.2:c.1828A>G | XP_011511196.1:p.Met610Val | |
| NM_006218.4:c.1828A>G MANE Select | NP_006209.2:p.Met610Val |