Linked Data
ClinVar Variation Id:
345726
dbSNP Id:
rs199698357
ExAC:
3:4725441 A / G
gnomAD v2:
3-4725441-A-G
gnomAD v3:
3-4683757-A-G
gnomAD v4:
3-4683757-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4683757A>G , CM000665.2:g.4683757A>G | GRCh38 |
| NC_000003.11:g.4725441A>G , CM000665.1:g.4725441A>G | GRCh37 |
| NC_000003.10:g.4700441A>G | NCBI36 |
| NG_016144.1:g.195410A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302640.13:c.3430A>G | ENSP00000306253.9:p.Met1144Val | |
| ENST00000354582.12:c.3430A>G | ENSP00000346595.8:p.Met1144Val | |
| ENST00000443694.5:c.3412A>G | ENSP00000401671.2:p.Met1138Val | |
| ENST00000354582.11:c.3430A>G | ENSP00000346595.8:p.Met1144Val | |
| ENST00000357086.10:c.3430A>G | ENSP00000349597.4:p.Met1144Val | |
| ENST00000443694.4:c.3412A>G | ENSP00000401671.2:p.Met1138Val | |
| ENST00000456211.8:c.3385A>G | ENSP00000397885.2:p.Met1129Val | |
| ENST00000544951.6:c.996+29871A>G | ENSP00000440564.1:n.996+29871A>G | |
| ENST00000647624.1:n.169A>G | ||
| ENST00000647717.1:n.958A>G | ||
| ENST00000648038.1:c.1267A>G | ENSP00000497872.1:p.Met423Val | |
| ENST00000648212.1:c.365A>G | ||
| ENST00000648266.1:c.3430A>G | ENSP00000498014.1:p.Met1144Val | |
| ENST00000648309.1:c.3385A>G | ENSP00000497026.1:p.Met1129Val | |
| ENST00000648431.1:c.759A>G | ||
| ENST00000649015.2:c.3457A>G MANE Select | ENSP00000497605.1:p.Met1153Val | |
| ENST00000650294.1:c.3412A>G | ENSP00000498056.1:p.Met1138Val | |
| ENST00000302640.12:c.3412A>G | ENSP00000306253.8:p.Met1138Val | |
| ENST00000354582.10:c.3457A>G | ENSP00000346595.7:p.Met1153Val | |
| ENST00000357086.9:c.3430A>G | ENSP00000349597.4:p.Met1144Val | |
| ENST00000443694.3:c.3412A>G | ENSP00000401671.2:p.Met1138Val | |
| ENST00000456211.7:c.3385A>G | ENSP00000397885.2:p.Met1129Val | |
| ENST00000544951.5:c.996+29871A>G | ENSP00000440564.1:n.996+29871A>G | |
| NM_001099952.2:c.3430A>G | NP_001093422.2:p.Met1144Val | |
| NM_001168272.1:c.3412A>G | NP_001161744.1:p.Met1138Val | |
| NM_002222.5:c.3385A>G | NP_002213.5:p.Met1129Val | |
| XM_005265109.2:c.3457A>G | XP_005265166.1:p.Met1153Val | |
| XM_005265110.2:c.3457A>G | XP_005265167.1:p.Met1153Val | |
| XM_006713131.2:c.3457A>G | XP_006713194.1:p.Met1153Val | |
| XM_011533681.1:c.3457A>G | XP_011531983.1:p.Met1153Val | |
| XM_011533682.1:c.3457A>G | XP_011531984.1:p.Met1153Val | |
| XM_011533683.1:c.3457A>G | XP_011531985.1:p.Met1153Val | |
| XM_011533684.1:c.3430A>G | XP_011531986.1:p.Met1144Val | |
| XM_011533685.1:c.3457A>G | XP_011531987.1:p.Met1153Val | |
| XM_011533686.1:c.3457A>G | XP_011531988.1:p.Met1153Val | |
| XM_011533687.1:c.3412A>G | XP_011531989.1:p.Met1138Val | |
| XM_011533688.1:c.3385A>G | XP_011531990.1:p.Met1129Val | |
| XM_011533689.1:c.3457A>G | XP_011531991.1:p.Met1153Val | |
| XM_011533690.1:c.3457A>G | XP_011531992.1:p.Met1153Val | |
| XM_011533691.1:c.3457A>G | XP_011531993.1:p.Met1153Val | |
| XM_011533692.1:c.3457A>G | XP_011531994.1:p.Met1153Val | |
| XM_005265109.3:c.3457A>G | XP_005265166.1:p.Met1153Val | |
| XM_005265110.3:c.3457A>G | XP_005265167.1:p.Met1153Val | |
| XM_006713131.3:c.3457A>G | XP_006713194.1:p.Met1153Val | |
| XM_011533682.3:c.3457A>G | XP_011531984.1:p.Met1153Val | |
| XM_011533683.3:c.3457A>G | XP_011531985.1:p.Met1153Val | |
| XM_011533684.2:c.3430A>G | XP_011531986.1:p.Met1144Val | |
| XM_011533685.2:c.3457A>G | XP_011531987.1:p.Met1153Val | |
| XM_011533686.2:c.3457A>G | XP_011531988.1:p.Met1153Val | |
| XM_011533687.2:c.3412A>G | XP_011531989.1:p.Met1138Val | |
| XM_011533688.2:c.3385A>G | XP_011531990.1:p.Met1129Val | |
| XM_011533690.2:c.3457A>G | XP_011531992.1:p.Met1153Val | |
| XM_011533692.2:c.3457A>G | XP_011531994.1:p.Met1153Val | |
| XM_017006357.2:c.3457A>G | XP_016861846.1:p.Met1153Val | |
| XM_017006358.1:c.3457A>G | XP_016861847.1:p.Met1153Val | |
| NM_001099952.3:c.3430A>G | NP_001093422.2:p.Met1144Val | |
| NM_002222.6:c.3385A>G | NP_002213.5:p.Met1129Val | |
| NM_001099952.4:c.3430A>G | NP_001093422.2:p.Met1144Val | |
| NM_001168272.2:c.3412A>G | NP_001161744.1:p.Met1138Val | |
| NM_001378452.1:c.3457A>G MANE Select | NP_001365381.1:p.Met1153Val | |
| NM_002222.7:c.3385A>G | NP_002213.5:p.Met1129Val |