Linked Data
dbSNP Id:
rs1166556361
gnomAD v2:
6-157510892-A-G
gnomAD v3:
6-157189758-A-G
gnomAD v4:
6-157189758-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157189758A>G , CM000668.2:g.157189758A>G | GRCh38 |
| NC_000006.11:g.157510892A>G , CM000668.1:g.157510892A>G | GRCh37 |
| NC_000006.10:g.157552584A>G | NCBI36 |
| NG_032093.1:g.416829A>G | |
| NG_032093.2:g.416829A>G | |
| NG_066624.1:g.418733A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3877A>G | ENSP00000055163.8:p.Met1293Val | |
| ENST00000414678.8:c.3946A>G | ENSP00000412835.3:p.Met1316Val | |
| ENST00000637015.2:c.4165A>G | ENSP00000489729.2:p.Met1389Val | |
| ENST00000346085.10:c.3916A>G | ENSP00000344546.5:p.Met1306Val | |
| ENST00000350026.10:c.3628A>G | ENSP00000055163.7:p.Met1210Val | |
| ENST00000414678.7:c.2194A>G | ENSP00000412835.2:p.Met732Val | |
| ENST00000635849.1:c.1357A>G | ENSP00000490948.1:p.Met453Val | |
| ENST00000635957.1:c.991A>G | ENSP00000490385.1:p.Met331Val | |
| ENST00000636930.2:c.4036A>G MANE Select | ENSP00000490491.2:p.Met1346Val | |
| ENST00000636940.1:n.2033A>G | ||
| ENST00000637015.1:c.1404A>G | ||
| ENST00000637568.1:c.1318A>G | ||
| ENST00000637741.1:n.702A>G | ||
| ENST00000637810.1:c.1378A>G | ENSP00000489636.1:p.Met460Val | |
| ENST00000637904.1:c.1537A>G | ENSP00000490550.1:p.Met513Val | |
| ENST00000647938.1:c.3667A>G | ENSP00000498155.1:p.Met1223Val | |
| ENST00000346085.9:c.3667A>G | ENSP00000344546.4:p.Met1223Val | |
| ENST00000350026.9:c.3628A>G | ENSP00000055163.7:p.Met1210Val | |
| ENST00000414678.6:c.2194A>G | ENSP00000412835.2:p.Met732Val | |
| NM_017519.2:c.3628A>G | NP_059989.2:p.Met1210Val | |
| NM_020732.3:c.3667A>G | NP_065783.3:p.Met1223Val | |
| XM_005267069.3:c.3787A>G | XP_005267126.2:p.Met1263Val | |
| XM_011535984.1:c.2866A>G | XP_011534286.1:p.Met956Val | |
| XM_011535985.1:c.2686A>G | XP_011534287.1:p.Met896Val | |
| XM_011535986.1:c.2446A>G | XP_011534288.1:p.Met816Val | |
| XM_011535987.1:c.2065A>G | XP_011534289.1:p.Met689Val | |
| XM_011535988.1:c.928A>G | XP_011534290.1:p.Met310Val | |
| NM_001346813.1:c.3787A>G | NP_001333742.1:p.Met1263Val | |
| NM_001363725.1:c.1537A>G | NP_001350654.1:p.Met513Val | |
| XM_011535984.2:c.3997A>G | XP_011534286.2:p.Met1333Val | |
| XM_011535988.3:c.928A>G | XP_011534290.1:p.Met310Val | |
| XM_017011103.2:c.3898A>G | XP_016866592.1:p.Met1300Val | |
| XM_017011104.1:c.3868A>G | XP_016866593.1:p.Met1290Val | |
| XM_017011105.2:c.3838A>G | XP_016866594.1:p.Met1280Val | |
| XM_017011106.2:c.3709A>G | XP_016866595.1:p.Met1237Val | |
| XM_017011107.2:c.3688A>G | XP_016866596.1:p.Met1230Val | |
| XR_002956289.1:n.4080A>G | ||
| NM_001363725.2:c.1537A>G | NP_001350654.1:p.Met513Val | |
| NM_001371656.1:c.3916A>G | NP_001358585.1:p.Met1306Val | |
| NM_001374820.1:c.3916A>G | NP_001361749.1:p.Met1306Val | |
| NM_001374828.1:c.4036A>G MANE Select | NP_001361757.1:p.Met1346Val | |
| NM_017519.3:c.3877A>G | NP_059989.3:p.Met1293Val |