Linked Data
ClinVar Variation Id:
2323651
ClinVar RCV Id:
RCV002920722
dbSNP Id:
rs750713205
ExAC:
6:157522091 T / C
gnomAD v2:
6-157522091-T-C
gnomAD v4:
6-157200957-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157200957T>C , CM000668.2:g.157200957T>C | GRCh38 |
| NC_000006.11:g.157522091T>C , CM000668.1:g.157522091T>C | GRCh37 |
| NC_000006.10:g.157563783T>C | NCBI36 |
| NG_032093.1:g.428028T>C | |
| NG_032093.2:g.428028T>C | |
| NG_066624.1:g.429932T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4573T>C | ENSP00000055163.8:p.Ser1525Pro | |
| ENST00000414678.8:c.4642T>C | ENSP00000412835.3:p.Ser1548Pro | |
| ENST00000637015.2:c.4861T>C | ENSP00000489729.2:p.Ser1621Pro | |
| ENST00000346085.10:c.4612T>C | ENSP00000344546.5:p.Ser1538Pro | |
| ENST00000350026.10:c.4324T>C | ENSP00000055163.7:p.Ser1442Pro | |
| ENST00000414678.7:c.2890T>C | ENSP00000412835.2:p.Ser964Pro | |
| ENST00000635849.1:c.2053T>C | ENSP00000490948.1:p.Ser685Pro | |
| ENST00000635957.1:c.1684T>C | ENSP00000490385.1:p.Ser562Pro | |
| ENST00000636227.1:n.3195T>C | ||
| ENST00000636254.1:n.652T>C | ||
| ENST00000636930.2:c.4732T>C MANE Select | ENSP00000490491.2:p.Ser1578Pro | |
| ENST00000636940.1:n.2729T>C | ||
| ENST00000637015.1:c.2100T>C | ||
| ENST00000637568.1:c.2014T>C | ||
| ENST00000637741.1:n.1398T>C | ||
| ENST00000637810.1:c.2074T>C | ENSP00000489636.1:p.Ser692Pro | |
| ENST00000637904.1:c.2233T>C | ENSP00000490550.1:p.Ser745Pro | |
| ENST00000647938.1:c.4363T>C | ENSP00000498155.1:p.Ser1455Pro | |
| ENST00000346085.9:c.4363T>C | ENSP00000344546.4:p.Ser1455Pro | |
| ENST00000350026.9:c.4324T>C | ENSP00000055163.7:p.Ser1442Pro | |
| ENST00000414678.6:c.2890T>C | ENSP00000412835.2:p.Ser964Pro | |
| NM_017519.2:c.4324T>C | NP_059989.2:p.Ser1442Pro | |
| NM_020732.3:c.4363T>C | NP_065783.3:p.Ser1455Pro | |
| XM_005267069.3:c.4483T>C | XP_005267126.2:p.Ser1495Pro | |
| XM_011535984.1:c.3562T>C | XP_011534286.1:p.Ser1188Pro | |
| XM_011535985.1:c.3382T>C | XP_011534287.1:p.Ser1128Pro | |
| XM_011535986.1:c.3142T>C | XP_011534288.1:p.Ser1048Pro | |
| XM_011535987.1:c.2761T>C | XP_011534289.1:p.Ser921Pro | |
| XM_011535988.1:c.1624T>C | XP_011534290.1:p.Ser542Pro | |
| NM_001346813.1:c.4483T>C | NP_001333742.1:p.Ser1495Pro | |
| NM_001363725.1:c.2233T>C | NP_001350654.1:p.Ser745Pro | |
| XM_011535984.2:c.4693T>C | XP_011534286.2:p.Ser1565Pro | |
| XM_011535988.3:c.1624T>C | XP_011534290.1:p.Ser542Pro | |
| XM_017011103.2:c.4594T>C | XP_016866592.1:p.Ser1532Pro | |
| XM_017011104.1:c.4564T>C | XP_016866593.1:p.Ser1522Pro | |
| XM_017011105.2:c.4534T>C | XP_016866594.1:p.Ser1512Pro | |
| XM_017011106.2:c.4405T>C | XP_016866595.1:p.Ser1469Pro | |
| XM_017011107.2:c.4384T>C | XP_016866596.1:p.Ser1462Pro | |
| XR_002956289.1:n.4679T>C | ||
| NM_001363725.2:c.2233T>C | NP_001350654.1:p.Ser745Pro | |
| NM_001371656.1:c.4612T>C | NP_001358585.1:p.Ser1538Pro | |
| NM_001374820.1:c.4612T>C | NP_001361749.1:p.Ser1538Pro | |
| NM_001374828.1:c.4732T>C MANE Select | NP_001361757.1:p.Ser1578Pro | |
| NM_017519.3:c.4573T>C | NP_059989.3:p.Ser1525Pro |