Linked Data
ClinVar Variation Id:
2879312
ClinVar RCV Id:
RCV003710642
dbSNP Id:
rs182287119
ExAC:
6:157522273 C / T
gnomAD v2:
6-157522273-C-T
gnomAD v3:
6-157201139-C-T
gnomAD v4:
6-157201139-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201139C>T , CM000668.2:g.157201139C>T | GRCh38 |
| NC_000006.11:g.157522273C>T , CM000668.1:g.157522273C>T | GRCh37 |
| NC_000006.10:g.157563965C>T | NCBI36 |
| NG_032093.1:g.428210C>T | |
| NG_032093.2:g.428210C>T | |
| NG_066624.1:g.430114C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4755C>T | ENSP00000055163.8:p.His1585= | |
| ENST00000414678.8:c.4824C>T | ENSP00000412835.3:p.His1608= | |
| ENST00000637015.2:c.5043C>T | ENSP00000489729.2:p.His1681= | |
| ENST00000346085.10:c.4794C>T | ENSP00000344546.5:p.His1598= | |
| ENST00000350026.10:c.4506C>T | ENSP00000055163.7:p.His1502= | |
| ENST00000414678.7:c.3072C>T | ENSP00000412835.2:p.His1024= | |
| ENST00000635849.1:c.2235C>T | ENSP00000490948.1:p.His745= | |
| ENST00000635957.1:c.1866C>T | ENSP00000490385.1:p.His622= | |
| ENST00000636227.1:n.3377C>T | ||
| ENST00000636254.1:n.834C>T | ||
| ENST00000636930.2:c.4914C>T MANE Select | ENSP00000490491.2:p.His1638= | |
| ENST00000636940.1:n.2911C>T | ||
| ENST00000637015.1:c.2282C>T | ||
| ENST00000637568.1:c.2196C>T | ||
| ENST00000637741.1:n.1580C>T | ||
| ENST00000637810.1:c.2256C>T | ENSP00000489636.1:p.His752= | |
| ENST00000637904.1:c.2415C>T | ENSP00000490550.1:p.His805= | |
| ENST00000647938.1:c.4545C>T | ENSP00000498155.1:p.His1515= | |
| ENST00000346085.9:c.4545C>T | ENSP00000344546.4:p.His1515= | |
| ENST00000350026.9:c.4506C>T | ENSP00000055163.7:p.His1502= | |
| ENST00000414678.6:c.3072C>T | ENSP00000412835.2:p.His1024= | |
| NM_017519.2:c.4506C>T | NP_059989.2:p.His1502= | |
| NM_020732.3:c.4545C>T | NP_065783.3:p.His1515= | |
| XM_005267069.3:c.4665C>T | XP_005267126.2:p.His1555= | |
| XM_011535984.1:c.3744C>T | XP_011534286.1:p.His1248= | |
| XM_011535985.1:c.3564C>T | XP_011534287.1:p.His1188= | |
| XM_011535986.1:c.3324C>T | XP_011534288.1:p.His1108= | |
| XM_011535987.1:c.2943C>T | XP_011534289.1:p.His981= | |
| XM_011535988.1:c.1806C>T | XP_011534290.1:p.His602= | |
| NM_001346813.1:c.4665C>T | NP_001333742.1:p.His1555= | |
| NM_001363725.1:c.2415C>T | NP_001350654.1:p.His805= | |
| XM_011535984.2:c.4875C>T | XP_011534286.2:p.His1625= | |
| XM_011535988.3:c.1806C>T | XP_011534290.1:p.His602= | |
| XM_017011103.2:c.4776C>T | XP_016866592.1:p.His1592= | |
| XM_017011104.1:c.4746C>T | XP_016866593.1:p.His1582= | |
| XM_017011105.2:c.4716C>T | XP_016866594.1:p.His1572= | |
| XM_017011106.2:c.4587C>T | XP_016866595.1:p.His1529= | |
| XM_017011107.2:c.4566C>T | XP_016866596.1:p.His1522= | |
| XR_002956289.1:n.4861C>T | ||
| NM_001363725.2:c.2415C>T | NP_001350654.1:p.His805= | |
| NM_001371656.1:c.4794C>T | NP_001358585.1:p.His1598= | |
| NM_001374820.1:c.4794C>T | NP_001361749.1:p.His1598= | |
| NM_001374828.1:c.4914C>T MANE Select | NP_001361757.1:p.His1638= | |
| NM_017519.3:c.4755C>T | NP_059989.3:p.His1585= |