Linked Data
ClinVar Variation Id:
2060307
ClinVar RCV Id:
RCV002957667
dbSNP Id:
rs1172416954
gnomAD v2:
3-48605143-C-T
gnomAD v4:
3-48567710-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48567710C>T , CM000665.2:g.48567710C>T | GRCh38 |
| NC_000003.11:g.48605143C>T , CM000665.1:g.48605143C>T | GRCh37 |
| NC_000003.10:g.48580147C>T | NCBI36 |
| NG_007065.1:g.32543G>A , LRG_286:g.32543G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7983G>A MANE Select | ENSP00000506558.1:p.Met2661Ile | |
| ENST00000328333.12:c.7983G>A | ENSP00000332371.8:p.Met2661Ile | |
| ENST00000459756.5:n.806G>A | ||
| ENST00000487017.5:n.4622G>A | ||
| NM_000094.3:c.7983G>A , LRG_286t1:c.7983G>A | NP_000085.1:p.Met2661Ile | |
| XM_011533336.1:c.8010G>A | XP_011531638.1:p.Met2670Ile | |
| XM_011533337.1:c.7983G>A | XP_011531639.1:p.Met2661Ile | |
| XM_011533338.1:c.7950G>A | XP_011531640.1:p.Met2650Ile | |
| XR_940369.1:n.8046G>A | ||
| XR_940370.1:n.8046G>A | ||
| XR_940371.1:n.8046G>A | ||
| XM_017005688.1:c.7923G>A | XP_016861177.1:p.Met2641Ile | |
| XR_001740003.1:n.8019G>A | ||
| XR_001740004.1:n.8019G>A | ||
| XR_001740005.1:n.8019G>A | ||
| NM_000094.4:c.7983G>A MANE Select | NP_000085.1:p.Met2661Ile |