Linked Data
ClinVar Variation Id:
2055772
ClinVar RCV Id:
RCV002910128
dbSNP Id:
rs1206706709
gnomAD v4:
6-157201405-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201405G>A , CM000668.2:g.157201405G>A | GRCh38 |
| NC_000006.11:g.157522539G>A , CM000668.1:g.157522539G>A | GRCh37 |
| NC_000006.10:g.157564231G>A | NCBI36 |
| NG_032093.1:g.428476G>A | |
| NG_032093.2:g.428476G>A | |
| NG_066624.1:g.430380G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.5021G>A | ENSP00000055163.8:p.Arg1674Lys | |
| ENST00000414678.8:c.5090G>A | ENSP00000412835.3:p.Arg1697Lys | |
| ENST00000637015.2:c.5309G>A | ENSP00000489729.2:p.Arg1770Lys | |
| ENST00000346085.10:c.5060G>A | ENSP00000344546.5:p.Arg1687Lys | |
| ENST00000350026.10:c.4772G>A | ENSP00000055163.7:p.Arg1591Lys | |
| ENST00000414678.7:c.3338G>A | ENSP00000412835.2:p.Arg1113Lys | |
| ENST00000635849.1:c.2501G>A | ENSP00000490948.1:p.Arg834Lys | |
| ENST00000635957.1:c.2132G>A | ENSP00000490385.1:p.Arg711Lys | |
| ENST00000636227.1:n.3643G>A | ||
| ENST00000636254.1:n.1100G>A | ||
| ENST00000636930.2:c.5180G>A MANE Select | ENSP00000490491.2:p.Arg1727Lys | |
| ENST00000636940.1:n.3177G>A | ||
| ENST00000637015.1:c.2548G>A | ||
| ENST00000637568.1:c.2462G>A | ||
| ENST00000637741.1:n.1846G>A | ||
| ENST00000637810.1:c.2522G>A | ENSP00000489636.1:p.Arg841Lys | |
| ENST00000637904.1:c.2681G>A | ENSP00000490550.1:p.Arg894Lys | |
| ENST00000647938.1:c.4811G>A | ENSP00000498155.1:p.Arg1604Lys | |
| ENST00000346085.9:c.4811G>A | ENSP00000344546.4:p.Arg1604Lys | |
| ENST00000350026.9:c.4772G>A | ENSP00000055163.7:p.Arg1591Lys | |
| ENST00000414678.6:c.3338G>A | ENSP00000412835.2:p.Arg1113Lys | |
| NM_017519.2:c.4772G>A | NP_059989.2:p.Arg1591Lys | |
| NM_020732.3:c.4811G>A | NP_065783.3:p.Arg1604Lys | |
| XM_005267069.3:c.4931G>A | XP_005267126.2:p.Arg1644Lys | |
| XM_011535984.1:c.4010G>A | XP_011534286.1:p.Arg1337Lys | |
| XM_011535985.1:c.3830G>A | XP_011534287.1:p.Arg1277Lys | |
| XM_011535986.1:c.3590G>A | XP_011534288.1:p.Arg1197Lys | |
| XM_011535987.1:c.3209G>A | XP_011534289.1:p.Arg1070Lys | |
| XM_011535988.1:c.2072G>A | XP_011534290.1:p.Arg691Lys | |
| NM_001346813.1:c.4931G>A | NP_001333742.1:p.Arg1644Lys | |
| NM_001363725.1:c.2681G>A | NP_001350654.1:p.Arg894Lys | |
| XM_011535984.2:c.5141G>A | XP_011534286.2:p.Arg1714Lys | |
| XM_011535988.3:c.2072G>A | XP_011534290.1:p.Arg691Lys | |
| XM_017011103.2:c.5042G>A | XP_016866592.1:p.Arg1681Lys | |
| XM_017011104.1:c.5012G>A | XP_016866593.1:p.Arg1671Lys | |
| XM_017011105.2:c.4982G>A | XP_016866594.1:p.Arg1661Lys | |
| XM_017011106.2:c.4853G>A | XP_016866595.1:p.Arg1618Lys | |
| XM_017011107.2:c.4832G>A | XP_016866596.1:p.Arg1611Lys | |
| XR_002956289.1:n.5127G>A | ||
| NM_001363725.2:c.2681G>A | NP_001350654.1:p.Arg894Lys | |
| NM_001371656.1:c.5060G>A | NP_001358585.1:p.Arg1687Lys | |
| NM_001374820.1:c.5060G>A | NP_001361749.1:p.Arg1687Lys | |
| NM_001374828.1:c.5180G>A MANE Select | NP_001361757.1:p.Arg1727Lys | |
| NM_017519.3:c.5021G>A | NP_059989.3:p.Arg1674Lys |