Linked Data
ClinVar Variation Id:
239295
dbSNP Id:
rs779675467
ExAC:
19:50918153 A / G
gnomAD v2:
19-50918153-A-G
gnomAD v3:
19-50414896-A-G
gnomAD v4:
19-50414896-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50414896A>G , CM000681.2:g.50414896A>G | GRCh38 |
| NC_000019.9:g.50918153A>G , CM000681.1:g.50918153A>G | GRCh37 |
| NC_000019.8:g.55609965A>G | NCBI36 |
| NG_033800.1:g.35574A>G , LRG_785:g.35574A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593887.2:c.2470A>G | ENSP00000472607.2:p.Met824Val | |
| ENST00000600746.2:n.2661A>G | ||
| ENST00000644560.2:c.2476A>G | ENSP00000495618.2:p.Met826Val | |
| ENST00000687454.1:c.2470A>G | ENSP00000510052.1:p.Met824Val | |
| ENST00000440232.7:c.2470A>G MANE Select | ENSP00000406046.1:p.Met824Val | |
| ENST00000595904.6:c.2548A>G | ENSP00000472445.1:p.Met850Val | |
| ENST00000599857.7:c.2470A>G | ENSP00000473052.1:p.Met824Val | |
| ENST00000601098.6:c.2470A>G | ENSP00000472600.2:p.Met824Val | |
| ENST00000613923.6:c.2398A>G | ENSP00000481858.2:p.Met800Val | |
| ENST00000643407.1:c.*257A>G | ENSP00000496078.1:n.*257A>G | |
| ENST00000440232.6:c.2470A>G | ENSP00000406046.1:p.Met824Val | |
| ENST00000593407.5:c.239A>G | ||
| ENST00000593981.1:c.96A>G | ||
| ENST00000595904.5:c.2548A>G | ENSP00000472445.1:p.Met850Val | |
| ENST00000599857.5:c.2470A>G | ENSP00000473052.1:p.Met824Val | |
| ENST00000600859.5:c.2470A>G | ENSP00000470726.1:p.Met824Val | |
| ENST00000613923.4:c.2548A>G | ENSP00000481858.1:p.Met850Val | |
| NM_001256849.1:c.2470A>G , LRG_785t1:c.2470A>G | NP_001243778.1:p.Met824Val | |
| NM_001308632.1:c.2548A>G , LRG_785t2:c.2548A>G | NP_001295561.1:p.Met850Val | |
| NM_002691.3:c.2470A>G | NP_002682.2:p.Met824Val | |
| NR_046402.1:n.2539A>G | ||
| XM_005259008.3:c.2398A>G | XP_005259065.1:p.Met800Val | |
| XM_011527038.1:c.2470A>G | XP_011525340.1:p.Met824Val | |
| XM_011527039.1:c.2470A>G | XP_011525341.1:p.Met824Val | |
| XM_005259008.4:c.2398A>G | XP_005259065.1:p.Met800Val | |
| XM_017026881.1:c.2470A>G | XP_016882370.1:p.Met824Val | |
| XM_017026882.2:c.2398A>G | XP_016882371.1:p.Met800Val | |
| NM_002691.4:c.2470A>G MANE Select | NP_002682.2:p.Met824Val | |
| NR_046402.2:n.2515A>G |