Linked Data
ClinVar Variation Id:
1336540
dbSNP Id:
rs770164775
ExAC:
6:157522390 C / T
gnomAD v2:
6-157522390-C-T
gnomAD v3:
6-157201256-C-T
gnomAD v4:
6-157201256-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201256C>T , CM000668.2:g.157201256C>T | GRCh38 |
| NC_000006.11:g.157522390C>T , CM000668.1:g.157522390C>T | GRCh37 |
| NC_000006.10:g.157564082C>T | NCBI36 |
| NG_032093.1:g.428327C>T | |
| NG_032093.2:g.428327C>T | |
| NG_066624.1:g.430231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4872C>T | ENSP00000055163.8:p.Pro1624= | |
| ENST00000414678.8:c.4941C>T | ENSP00000412835.3:p.Pro1647= | |
| ENST00000637015.2:c.5160C>T | ENSP00000489729.2:p.Pro1720= | |
| ENST00000346085.10:c.4911C>T | ENSP00000344546.5:p.Pro1637= | |
| ENST00000350026.10:c.4623C>T | ENSP00000055163.7:p.Pro1541= | |
| ENST00000414678.7:c.3189C>T | ENSP00000412835.2:p.Pro1063= | |
| ENST00000635849.1:c.2352C>T | ENSP00000490948.1:p.Pro784= | |
| ENST00000635957.1:c.1983C>T | ENSP00000490385.1:p.Pro661= | |
| ENST00000636227.1:n.3494C>T | ||
| ENST00000636254.1:n.951C>T | ||
| ENST00000636930.2:c.5031C>T MANE Select | ENSP00000490491.2:p.Pro1677= | |
| ENST00000636940.1:n.3028C>T | ||
| ENST00000637015.1:c.2399C>T | ||
| ENST00000637568.1:c.2313C>T | ||
| ENST00000637741.1:n.1697C>T | ||
| ENST00000637810.1:c.2373C>T | ENSP00000489636.1:p.Pro791= | |
| ENST00000637904.1:c.2532C>T | ENSP00000490550.1:p.Pro844= | |
| ENST00000647938.1:c.4662C>T | ENSP00000498155.1:p.Pro1554= | |
| ENST00000346085.9:c.4662C>T | ENSP00000344546.4:p.Pro1554= | |
| ENST00000350026.9:c.4623C>T | ENSP00000055163.7:p.Pro1541= | |
| ENST00000414678.6:c.3189C>T | ENSP00000412835.2:p.Pro1063= | |
| NM_017519.2:c.4623C>T | NP_059989.2:p.Pro1541= | |
| NM_020732.3:c.4662C>T | NP_065783.3:p.Pro1554= | |
| XM_005267069.3:c.4782C>T | XP_005267126.2:p.Pro1594= | |
| XM_011535984.1:c.3861C>T | XP_011534286.1:p.Pro1287= | |
| XM_011535985.1:c.3681C>T | XP_011534287.1:p.Pro1227= | |
| XM_011535986.1:c.3441C>T | XP_011534288.1:p.Pro1147= | |
| XM_011535987.1:c.3060C>T | XP_011534289.1:p.Pro1020= | |
| XM_011535988.1:c.1923C>T | XP_011534290.1:p.Pro641= | |
| NM_001346813.1:c.4782C>T | NP_001333742.1:p.Pro1594= | |
| NM_001363725.1:c.2532C>T | NP_001350654.1:p.Pro844= | |
| XM_011535984.2:c.4992C>T | XP_011534286.2:p.Pro1664= | |
| XM_011535988.3:c.1923C>T | XP_011534290.1:p.Pro641= | |
| XM_017011103.2:c.4893C>T | XP_016866592.1:p.Pro1631= | |
| XM_017011104.1:c.4863C>T | XP_016866593.1:p.Pro1621= | |
| XM_017011105.2:c.4833C>T | XP_016866594.1:p.Pro1611= | |
| XM_017011106.2:c.4704C>T | XP_016866595.1:p.Pro1568= | |
| XM_017011107.2:c.4683C>T | XP_016866596.1:p.Pro1561= | |
| XR_002956289.1:n.4978C>T | ||
| NM_001363725.2:c.2532C>T | NP_001350654.1:p.Pro844= | |
| NM_001371656.1:c.4911C>T | NP_001358585.1:p.Pro1637= | |
| NM_001374820.1:c.4911C>T | NP_001361749.1:p.Pro1637= | |
| NM_001374828.1:c.5031C>T MANE Select | NP_001361757.1:p.Pro1677= | |
| NM_017519.3:c.4872C>T | NP_059989.3:p.Pro1624= |