Linked Data
ClinVar Variation Id:
51005
dbSNP Id:
rs587776986
ExAC:
22:50903513 T / C
gnomAD v2:
22-50903513-T-C
gnomAD v3:
22-50465084-T-C
gnomAD v4:
22-50465084-T-C
PubMed:
PMID:23749797
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50465084T>C , CM000684.2:g.50465084T>C | GRCh38 |
| NC_000022.10:g.50903513T>C , CM000684.1:g.50903513T>C | GRCh37 |
| NC_000022.9:g.49250379T>C | NCBI36 |
| NG_041810.1:g.14988A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.1249A>G | ENSP00000252027.8:p.Met417Val | |
| ENST00000684986.1:c.1252A>G | ENSP00000509117.1:p.Met418Val | |
| ENST00000685180.1:n.488-346A>G | ||
| ENST00000685239.1:c.156A>G | ENSP00000509640.1:n.156A>G | |
| ENST00000685809.1:c.1243A>G | ENSP00000508863.1:p.Met415Val | |
| ENST00000686222.1:c.*674A>G | ENSP00000508737.1:n.*674A>G | |
| ENST00000686427.1:c.1249A>G | ENSP00000510379.1:p.Met417Val | |
| ENST00000686801.1:c.1240A>G | ENSP00000509915.1:p.Met414Val | |
| ENST00000687016.1:c.1243A>G | ENSP00000509074.1:p.Met415Val | |
| ENST00000687704.1:c.1249A>G | ENSP00000510454.1:p.Met417Val | |
| ENST00000688066.1:c.1252A>G | ENSP00000510782.1:p.Met418Val | |
| ENST00000688124.1:c.*243A>G | ENSP00000510645.1:n.*243A>G | |
| ENST00000688848.1:c.*674A>G | ENSP00000509419.1:n.*674A>G | |
| ENST00000689129.1:c.1252A>G | ENSP00000510414.1:p.Met418Val | |
| ENST00000689981.1:c.1249A>G | ENSP00000509035.1:p.Met417Val | |
| ENST00000690369.1:n.1270A>G | ||
| ENST00000690990.1:c.1243A>G | ENSP00000510461.1:p.Met415Val | |
| ENST00000691233.1:c.1249A>G | ENSP00000509215.1:p.Met417Val | |
| ENST00000691792.1:c.1249A>G | ENSP00000509911.1:p.Met417Val | |
| ENST00000691959.1:n.891A>G | ||
| ENST00000693052.1:c.1249A>G | ENSP00000509558.1:p.Met417Val | |
| ENST00000693440.1:c.1249A>G | ENSP00000509462.1:p.Met417Val | |
| ENST00000693675.1:n.629A>G | ||
| ENST00000380817.8:c.1249A>G MANE Select | ENSP00000370196.2:p.Met417Val | |
| ENST00000348911.10:c.1252A>G | ENSP00000252027.7:p.Met418Val | |
| ENST00000380817.7:c.1249A>G | ENSP00000370196.2:p.Met417Val | |
| NM_002972.3:c.1249A>G | NP_002963.2:p.Met417Val | |
| XM_005261931.1:c.1252A>G | XP_005261988.1:p.Met418Val | |
| XM_005261935.1:c.1249A>G | XP_005261992.1:p.Met417Val | |
| XM_011530707.1:c.1351A>G | XP_011529009.1:p.Met451Val | |
| XM_011530708.1:c.1303A>G | XP_011529010.1:p.Met435Val | |
| XM_011530709.1:c.1279A>G | XP_011529011.1:p.Met427Val | |
| XM_011530710.1:c.1276A>G | XP_011529012.1:p.Met426Val | |
| XM_011530711.1:c.1354A>G | XP_011529013.1:p.Met452Val | |
| XR_938344.1:n.1369A>G | ||
| NM_001365819.1:c.1252A>G | NP_001352748.1:p.Met418Val | |
| XM_005261935.2:c.1249A>G | XP_005261992.1:p.Met417Val | |
| XM_011530709.2:c.1279A>G | XP_011529011.1:p.Met427Val | |
| XM_011530710.2:c.1276A>G | XP_011529012.1:p.Met426Val | |
| XM_017028905.2:c.1279A>G | XP_016884394.1:p.Met427Val | |
| NM_002972.4:c.1249A>G MANE Select | NP_002963.2:p.Met417Val |