Linked Data
ClinVar Variation Id:
1490013
ClinVar RCV Id:
RCV001978463
dbSNP Id:
rs138784762
ExAC:
6:157511242 A / G
gnomAD v2:
6-157511242-A-G
gnomAD v3:
6-157190108-A-G
gnomAD v4:
6-157190108-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157190108A>G , CM000668.2:g.157190108A>G | GRCh38 |
| NC_000006.11:g.157511242A>G , CM000668.1:g.157511242A>G | GRCh37 |
| NC_000006.10:g.157552934A>G | NCBI36 |
| NG_032093.1:g.417179A>G | |
| NG_032093.2:g.417179A>G | |
| NG_066624.1:g.419083A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3970A>G | ENSP00000055163.8:p.Met1324Val | |
| ENST00000414678.8:c.4039A>G | ENSP00000412835.3:p.Met1347Val | |
| ENST00000637015.2:c.4258A>G | ENSP00000489729.2:p.Met1420Val | |
| ENST00000346085.10:c.4009A>G | ENSP00000344546.5:p.Met1337Val | |
| ENST00000350026.10:c.3721A>G | ENSP00000055163.7:p.Met1241Val | |
| ENST00000414678.7:c.2287A>G | ENSP00000412835.2:p.Met763Val | |
| ENST00000635849.1:c.1450A>G | ENSP00000490948.1:p.Met484Val | |
| ENST00000635957.1:c.1081A>G | ENSP00000490385.1:p.Met361Val | |
| ENST00000636930.2:c.4129A>G MANE Select | ENSP00000490491.2:p.Met1377Val | |
| ENST00000636940.1:n.2126A>G | ||
| ENST00000637015.1:c.1497A>G | ||
| ENST00000637568.1:c.1411A>G | ||
| ENST00000637741.1:n.795A>G | ||
| ENST00000637810.1:c.1471A>G | ENSP00000489636.1:p.Met491Val | |
| ENST00000637904.1:c.1630A>G | ENSP00000490550.1:p.Met544Val | |
| ENST00000647938.1:c.3760A>G | ENSP00000498155.1:p.Met1254Val | |
| ENST00000346085.9:c.3760A>G | ENSP00000344546.4:p.Met1254Val | |
| ENST00000350026.9:c.3721A>G | ENSP00000055163.7:p.Met1241Val | |
| ENST00000414678.6:c.2287A>G | ENSP00000412835.2:p.Met763Val | |
| NM_017519.2:c.3721A>G | NP_059989.2:p.Met1241Val | |
| NM_020732.3:c.3760A>G | NP_065783.3:p.Met1254Val | |
| XM_005267069.3:c.3880A>G | XP_005267126.2:p.Met1294Val | |
| XM_011535984.1:c.2959A>G | XP_011534286.1:p.Met987Val | |
| XM_011535985.1:c.2779A>G | XP_011534287.1:p.Met927Val | |
| XM_011535986.1:c.2539A>G | XP_011534288.1:p.Met847Val | |
| XM_011535987.1:c.2158A>G | XP_011534289.1:p.Met720Val | |
| XM_011535988.1:c.1021A>G | XP_011534290.1:p.Met341Val | |
| NM_001346813.1:c.3880A>G | NP_001333742.1:p.Met1294Val | |
| NM_001363725.1:c.1630A>G | NP_001350654.1:p.Met544Val | |
| XM_011535984.2:c.4090A>G | XP_011534286.2:p.Met1364Val | |
| XM_011535988.3:c.1021A>G | XP_011534290.1:p.Met341Val | |
| XM_017011103.2:c.3991A>G | XP_016866592.1:p.Met1331Val | |
| XM_017011104.1:c.3961A>G | XP_016866593.1:p.Met1321Val | |
| XM_017011105.2:c.3931A>G | XP_016866594.1:p.Met1311Val | |
| XM_017011106.2:c.3802A>G | XP_016866595.1:p.Met1268Val | |
| XM_017011107.2:c.3781A>G | XP_016866596.1:p.Met1261Val | |
| XR_002956289.1:n.4173A>G | ||
| NM_001363725.2:c.1630A>G | NP_001350654.1:p.Met544Val | |
| NM_001371656.1:c.4009A>G | NP_001358585.1:p.Met1337Val | |
| NM_001374820.1:c.4009A>G | NP_001361749.1:p.Met1337Val | |
| NM_001374828.1:c.4129A>G MANE Select | NP_001361757.1:p.Met1377Val | |
| NM_017519.3:c.3970A>G | NP_059989.3:p.Met1324Val |