Linked Data
ClinVar Variation Id:
126333
dbSNP Id:
rs34870395
ExAC:
6:157522223 A / T
gnomAD v2:
6-157522223-A-T
gnomAD v3:
6-157201089-A-T
gnomAD v4:
6-157201089-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201089A>T , CM000668.2:g.157201089A>T | GRCh38 |
| NC_000006.11:g.157522223A>T , CM000668.1:g.157522223A>T | GRCh37 |
| NC_000006.10:g.157563915A>T | NCBI36 |
| NG_032093.1:g.428160A>T | |
| NG_032093.2:g.428160A>T | |
| NG_066624.1:g.430064A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4705A>T | ENSP00000055163.8:p.Met1569Leu | |
| ENST00000414678.8:c.4774A>T | ENSP00000412835.3:p.Met1592Leu | |
| ENST00000637015.2:c.4993A>T | ENSP00000489729.2:p.Met1665Leu | |
| ENST00000346085.10:c.4744A>T | ENSP00000344546.5:p.Met1582Leu | |
| ENST00000350026.10:c.4456A>T | ENSP00000055163.7:p.Met1486Leu | |
| ENST00000414678.7:c.3022A>T | ENSP00000412835.2:p.Met1008Leu | |
| ENST00000635849.1:c.2185A>T | ENSP00000490948.1:p.Met729Leu | |
| ENST00000635957.1:c.1816A>T | ENSP00000490385.1:p.Met606Leu | |
| ENST00000636227.1:n.3327A>T | ||
| ENST00000636254.1:n.784A>T | ||
| ENST00000636930.2:c.4864A>T MANE Select | ENSP00000490491.2:p.Met1622Leu | |
| ENST00000636940.1:n.2861A>T | ||
| ENST00000637015.1:c.2232A>T | ||
| ENST00000637568.1:c.2146A>T | ||
| ENST00000637741.1:n.1530A>T | ||
| ENST00000637810.1:c.2206A>T | ENSP00000489636.1:p.Met736Leu | |
| ENST00000637904.1:c.2365A>T | ENSP00000490550.1:p.Met789Leu | |
| ENST00000647938.1:c.4495A>T | ENSP00000498155.1:p.Met1499Leu | |
| ENST00000346085.9:c.4495A>T | ENSP00000344546.4:p.Met1499Leu | |
| ENST00000350026.9:c.4456A>T | ENSP00000055163.7:p.Met1486Leu | |
| ENST00000414678.6:c.3022A>T | ENSP00000412835.2:p.Met1008Leu | |
| NM_017519.2:c.4456A>T | NP_059989.2:p.Met1486Leu | |
| NM_020732.3:c.4495A>T | NP_065783.3:p.Met1499Leu | |
| XM_005267069.3:c.4615A>T | XP_005267126.2:p.Met1539Leu | |
| XM_011535984.1:c.3694A>T | XP_011534286.1:p.Met1232Leu | |
| XM_011535985.1:c.3514A>T | XP_011534287.1:p.Met1172Leu | |
| XM_011535986.1:c.3274A>T | XP_011534288.1:p.Met1092Leu | |
| XM_011535987.1:c.2893A>T | XP_011534289.1:p.Met965Leu | |
| XM_011535988.1:c.1756A>T | XP_011534290.1:p.Met586Leu | |
| NM_001346813.1:c.4615A>T | NP_001333742.1:p.Met1539Leu | |
| NM_001363725.1:c.2365A>T | NP_001350654.1:p.Met789Leu | |
| XM_011535984.2:c.4825A>T | XP_011534286.2:p.Met1609Leu | |
| XM_011535988.3:c.1756A>T | XP_011534290.1:p.Met586Leu | |
| XM_017011103.2:c.4726A>T | XP_016866592.1:p.Met1576Leu | |
| XM_017011104.1:c.4696A>T | XP_016866593.1:p.Met1566Leu | |
| XM_017011105.2:c.4666A>T | XP_016866594.1:p.Met1556Leu | |
| XM_017011106.2:c.4537A>T | XP_016866595.1:p.Met1513Leu | |
| XM_017011107.2:c.4516A>T | XP_016866596.1:p.Met1506Leu | |
| XR_002956289.1:n.4811A>T | ||
| NM_001363725.2:c.2365A>T | NP_001350654.1:p.Met789Leu | |
| NM_001371656.1:c.4744A>T | NP_001358585.1:p.Met1582Leu | |
| NM_001374820.1:c.4744A>T | NP_001361749.1:p.Met1582Leu | |
| NM_001374828.1:c.4864A>T MANE Select | NP_001361757.1:p.Met1622Leu | |
| NM_017519.3:c.4705A>T | NP_059989.3:p.Met1569Leu |