Linked Data
dbSNP Id:
rs750447037
ExAC:
6:157527613 C / A
gnomAD v2:
6-157527613-C-A
gnomAD v4:
6-157206479-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157206479C>A , CM000668.2:g.157206479C>A | GRCh38 |
| NC_000006.11:g.157527613C>A , CM000668.1:g.157527613C>A | GRCh37 |
| NC_000006.10:g.157569305C>A | NCBI36 |
| NG_032093.1:g.433550C>A | |
| NG_032093.2:g.433550C>A | |
| NG_066624.1:g.435454C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350026.11:c.5548C>A | ENSP00000055163.8:p.Gln1850Lys | |
| ENST00000414678.8:c.5617C>A | ENSP00000412835.3:p.Gln1873Lys | |
| ENST00000637015.2:c.5836C>A | ENSP00000489729.2:p.Gln1946Lys | |
| ENST00000346085.10:c.5587C>A | ENSP00000344546.5:p.Gln1863Lys | |
| ENST00000350026.10:c.5299C>A | ENSP00000055163.7:p.Gln1767Lys | |
| ENST00000414678.7:c.3865C>A | ENSP00000412835.2:p.Gln1289Lys | |
| ENST00000635849.1:c.3028C>A | ENSP00000490948.1:p.Gln1010Lys | |
| ENST00000635957.1:c.2659C>A | ENSP00000490385.1:p.Gln887Lys | |
| ENST00000636227.1:n.4170C>A | ||
| ENST00000636254.1:n.1627C>A | ||
| ENST00000636930.2:c.5707C>A MANE Select | ENSP00000490491.2:p.Gln1903Lys | |
| ENST00000636940.1:n.3704C>A | ||
| ENST00000637015.1:c.3075C>A | ||
| ENST00000637568.1:c.2989C>A | ||
| ENST00000637741.1:n.2373C>A | ||
| ENST00000637810.1:c.3049C>A | ENSP00000489636.1:p.Gln1017Lys | |
| ENST00000637904.1:c.3208C>A | ENSP00000490550.1:p.Gln1070Lys | |
| ENST00000637933.1:n.2822C>A | ||
| ENST00000647938.1:c.5338C>A | ENSP00000498155.1:p.Gln1780Lys | |
| ENST00000346085.9:c.5338C>A | ENSP00000344546.4:p.Gln1780Lys | |
| ENST00000350026.9:c.5299C>A | ENSP00000055163.7:p.Gln1767Lys | |
| ENST00000414678.6:c.3865C>A | ENSP00000412835.2:p.Gln1289Lys | |
| NM_017519.2:c.5299C>A | NP_059989.2:p.Gln1767Lys | |
| NM_020732.3:c.5338C>A | NP_065783.3:p.Gln1780Lys | |
| XM_005267069.3:c.5458C>A | XP_005267126.2:p.Gln1820Lys | |
| XM_011535984.1:c.4537C>A | XP_011534286.1:p.Gln1513Lys | |
| XM_011535985.1:c.4357C>A | XP_011534287.1:p.Gln1453Lys | |
| XM_011535986.1:c.4117C>A | XP_011534288.1:p.Gln1373Lys | |
| XM_011535987.1:c.3736C>A | XP_011534289.1:p.Gln1246Lys | |
| XM_011535988.1:c.2599C>A | XP_011534290.1:p.Gln867Lys | |
| NM_001346813.1:c.5458C>A | NP_001333742.1:p.Gln1820Lys | |
| NM_001363725.1:c.3208C>A | NP_001350654.1:p.Gln1070Lys | |
| XM_011535984.2:c.5668C>A | XP_011534286.2:p.Gln1890Lys | |
| XM_011535988.3:c.2599C>A | XP_011534290.1:p.Gln867Lys | |
| XM_017011103.2:c.5569C>A | XP_016866592.1:p.Gln1857Lys | |
| XM_017011104.1:c.5539C>A | XP_016866593.1:p.Gln1847Lys | |
| XM_017011105.2:c.5509C>A | XP_016866594.1:p.Gln1837Lys | |
| XM_017011106.2:c.5380C>A | XP_016866595.1:p.Gln1794Lys | |
| XM_017011107.2:c.5359C>A | XP_016866596.1:p.Gln1787Lys | |
| XR_002956289.1:n.5654C>A | ||
| NM_001363725.2:c.3208C>A | NP_001350654.1:p.Gln1070Lys | |
| NM_001371656.1:c.5587C>A | NP_001358585.1:p.Gln1863Lys | |
| NM_001374820.1:c.5587C>A | NP_001361749.1:p.Gln1863Lys | |
| NM_001374828.1:c.5707C>A MANE Select | NP_001361757.1:p.Gln1903Lys | |
| NM_017519.3:c.5548C>A | NP_059989.3:p.Gln1850Lys |