Linked Data
ClinVar Variation Id:
2073985
ClinVar RCV Id:
RCV002944202
dbSNP Id:
rs777745107
ExAC:
6:157522485 C / T
gnomAD v2:
6-157522485-C-T
gnomAD v3:
6-157201351-C-T
gnomAD v4:
6-157201351-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201351C>T , CM000668.2:g.157201351C>T | GRCh38 |
| NC_000006.11:g.157522485C>T , CM000668.1:g.157522485C>T | GRCh37 |
| NC_000006.10:g.157564177C>T | NCBI36 |
| NG_032093.1:g.428422C>T | |
| NG_032093.2:g.428422C>T | |
| NG_066624.1:g.430326C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4967C>T | ENSP00000055163.8:p.Thr1656Met | |
| ENST00000414678.8:c.5036C>T | ENSP00000412835.3:p.Thr1679Met | |
| ENST00000637015.2:c.5255C>T | ENSP00000489729.2:p.Thr1752Met | |
| ENST00000346085.10:c.5006C>T | ENSP00000344546.5:p.Thr1669Met | |
| ENST00000350026.10:c.4718C>T | ENSP00000055163.7:p.Thr1573Met | |
| ENST00000414678.7:c.3284C>T | ENSP00000412835.2:p.Thr1095Met | |
| ENST00000635849.1:c.2447C>T | ENSP00000490948.1:p.Thr816Met | |
| ENST00000635957.1:c.2078C>T | ENSP00000490385.1:p.Thr693Met | |
| ENST00000636227.1:n.3589C>T | ||
| ENST00000636254.1:n.1046C>T | ||
| ENST00000636930.2:c.5126C>T MANE Select | ENSP00000490491.2:p.Thr1709Met | |
| ENST00000636940.1:n.3123C>T | ||
| ENST00000637015.1:c.2494C>T | ||
| ENST00000637568.1:c.2408C>T | ||
| ENST00000637741.1:n.1792C>T | ||
| ENST00000637810.1:c.2468C>T | ENSP00000489636.1:p.Thr823Met | |
| ENST00000637904.1:c.2627C>T | ENSP00000490550.1:p.Thr876Met | |
| ENST00000647938.1:c.4757C>T | ENSP00000498155.1:p.Thr1586Met | |
| ENST00000346085.9:c.4757C>T | ENSP00000344546.4:p.Thr1586Met | |
| ENST00000350026.9:c.4718C>T | ENSP00000055163.7:p.Thr1573Met | |
| ENST00000414678.6:c.3284C>T | ENSP00000412835.2:p.Thr1095Met | |
| NM_017519.2:c.4718C>T | NP_059989.2:p.Thr1573Met | |
| NM_020732.3:c.4757C>T | NP_065783.3:p.Thr1586Met | |
| XM_005267069.3:c.4877C>T | XP_005267126.2:p.Thr1626Met | |
| XM_011535984.1:c.3956C>T | XP_011534286.1:p.Thr1319Met | |
| XM_011535985.1:c.3776C>T | XP_011534287.1:p.Thr1259Met | |
| XM_011535986.1:c.3536C>T | XP_011534288.1:p.Thr1179Met | |
| XM_011535987.1:c.3155C>T | XP_011534289.1:p.Thr1052Met | |
| XM_011535988.1:c.2018C>T | XP_011534290.1:p.Thr673Met | |
| NM_001346813.1:c.4877C>T | NP_001333742.1:p.Thr1626Met | |
| NM_001363725.1:c.2627C>T | NP_001350654.1:p.Thr876Met | |
| XM_011535984.2:c.5087C>T | XP_011534286.2:p.Thr1696Met | |
| XM_011535988.3:c.2018C>T | XP_011534290.1:p.Thr673Met | |
| XM_017011103.2:c.4988C>T | XP_016866592.1:p.Thr1663Met | |
| XM_017011104.1:c.4958C>T | XP_016866593.1:p.Thr1653Met | |
| XM_017011105.2:c.4928C>T | XP_016866594.1:p.Thr1643Met | |
| XM_017011106.2:c.4799C>T | XP_016866595.1:p.Thr1600Met | |
| XM_017011107.2:c.4778C>T | XP_016866596.1:p.Thr1593Met | |
| XR_002956289.1:n.5073C>T | ||
| NM_001363725.2:c.2627C>T | NP_001350654.1:p.Thr876Met | |
| NM_001371656.1:c.5006C>T | NP_001358585.1:p.Thr1669Met | |
| NM_001374820.1:c.5006C>T | NP_001361749.1:p.Thr1669Met | |
| NM_001374828.1:c.5126C>T MANE Select | NP_001361757.1:p.Thr1709Met | |
| NM_017519.3:c.4967C>T | NP_059989.3:p.Thr1656Met |