Linked Data
ClinVar Variation Id:
949596
ClinVar RCV Id:
RCV001221091
dbSNP Id:
rs1224140312
gnomAD v2:
22-19751784-A-G
gnomAD v4:
22-19764261-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19764261A>G , CM000684.2:g.19764261A>G | GRCh38 |
| NC_000022.10:g.19751784A>G , CM000684.1:g.19751784A>G | GRCh37 |
| NC_000022.9:g.18131784A>G | NCBI36 |
| NG_009229.1:g.12559A>G , LRG_226:g.12559A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700274.1:c.172A>G | ENSP00000514909.1:p.Met58Val | |
| ENST00000649276.2:c.646A>G MANE Select | ENSP00000497003.1:p.Met216Val | |
| ENST00000680333.1:c.619A>G | ENSP00000505472.1:p.Met207Val | |
| ENST00000329705.11:c.619A>G | ENSP00000331176.7:p.Met207Val | |
| ENST00000332710.8:c.619A>G | ENSP00000331791.4:p.Met207Val | |
| ENST00000359500.7:c.619A>G | ENSP00000352483.3:p.Met207Val | |
| ENST00000621939.1:c.619A>G | ENSP00000477982.1:p.Met207Val | |
| NM_005992.1:c.619A>G | NP_005983.1:p.Met207Val | |
| NM_080646.1:c.619A>G | NP_542377.1:p.Met207Val | |
| NM_080647.1:c.619A>G , LRG_226t1:c.619A>G | NP_542378.1:p.Met207Val | |
| XM_006724312.1:c.619A>G | XP_006724375.1:p.Met207Val | |
| XM_011530351.1:c.646A>G | XP_011528653.1:p.Met216Val | |
| XM_006724312.2:c.619A>G | XP_006724375.1:p.Met207Val | |
| XM_017028925.1:c.769A>G | XP_016884414.1:p.Met257Val | |
| XM_017028926.1:c.619A>G | XP_016884415.1:p.Met207Val | |
| XM_017028928.1:c.769A>G | XP_016884417.1:p.Met257Val | |
| NM_001379200.1:c.646A>G MANE Select | NP_001366129.1:p.Met216Val | |
| NM_080646.2:c.619A>G | NP_542377.1:p.Met207Val |