Linked Data
dbSNP Id:
rs756141390
ExAC:
6:157510857 A / G
gnomAD v2:
6-157510857-A-G
gnomAD v4:
6-157189723-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157189723A>G , CM000668.2:g.157189723A>G | GRCh38 |
| NC_000006.11:g.157510857A>G , CM000668.1:g.157510857A>G | GRCh37 |
| NC_000006.10:g.157552549A>G | NCBI36 |
| NG_032093.1:g.416794A>G | |
| NG_032093.2:g.416794A>G | |
| NG_066624.1:g.418698A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3842A>G | ENSP00000055163.8:p.Lys1281Arg | |
| ENST00000414678.8:c.3911A>G | ENSP00000412835.3:p.Lys1304Arg | |
| ENST00000637015.2:c.4130A>G | ENSP00000489729.2:p.Lys1377Arg | |
| ENST00000346085.10:c.3881A>G | ENSP00000344546.5:p.Lys1294Arg | |
| ENST00000350026.10:c.3593A>G | ENSP00000055163.7:p.Lys1198Arg | |
| ENST00000414678.7:c.2159A>G | ENSP00000412835.2:p.Lys720Arg | |
| ENST00000635849.1:c.1322A>G | ENSP00000490948.1:p.Lys441Arg | |
| ENST00000635957.1:c.956A>G | ENSP00000490385.1:p.Lys319Arg | |
| ENST00000636930.2:c.4001A>G MANE Select | ENSP00000490491.2:p.Lys1334Arg | |
| ENST00000636940.1:n.1998A>G | ||
| ENST00000637015.1:c.1369A>G | ||
| ENST00000637568.1:c.1283A>G | ||
| ENST00000637741.1:n.667A>G | ||
| ENST00000637810.1:c.1343A>G | ENSP00000489636.1:p.Lys448Arg | |
| ENST00000637904.1:c.1502A>G | ENSP00000490550.1:p.Lys501Arg | |
| ENST00000647938.1:c.3632A>G | ENSP00000498155.1:p.Lys1211Arg | |
| ENST00000346085.9:c.3632A>G | ENSP00000344546.4:p.Lys1211Arg | |
| ENST00000350026.9:c.3593A>G | ENSP00000055163.7:p.Lys1198Arg | |
| ENST00000414678.6:c.2159A>G | ENSP00000412835.2:p.Lys720Arg | |
| NM_017519.2:c.3593A>G | NP_059989.2:p.Lys1198Arg | |
| NM_020732.3:c.3632A>G | NP_065783.3:p.Lys1211Arg | |
| XM_005267069.3:c.3752A>G | XP_005267126.2:p.Lys1251Arg | |
| XM_011535984.1:c.2831A>G | XP_011534286.1:p.Lys944Arg | |
| XM_011535985.1:c.2651A>G | XP_011534287.1:p.Lys884Arg | |
| XM_011535986.1:c.2411A>G | XP_011534288.1:p.Lys804Arg | |
| XM_011535987.1:c.2030A>G | XP_011534289.1:p.Lys677Arg | |
| XM_011535988.1:c.893A>G | XP_011534290.1:p.Lys298Arg | |
| NM_001346813.1:c.3752A>G | NP_001333742.1:p.Lys1251Arg | |
| NM_001363725.1:c.1502A>G | NP_001350654.1:p.Lys501Arg | |
| XM_011535984.2:c.3962A>G | XP_011534286.2:p.Lys1321Arg | |
| XM_011535988.3:c.893A>G | XP_011534290.1:p.Lys298Arg | |
| XM_017011103.2:c.3863A>G | XP_016866592.1:p.Lys1288Arg | |
| XM_017011104.1:c.3833A>G | XP_016866593.1:p.Lys1278Arg | |
| XM_017011105.2:c.3803A>G | XP_016866594.1:p.Lys1268Arg | |
| XM_017011106.2:c.3674A>G | XP_016866595.1:p.Lys1225Arg | |
| XM_017011107.2:c.3653A>G | XP_016866596.1:p.Lys1218Arg | |
| XR_002956289.1:n.4045A>G | ||
| NM_001363725.2:c.1502A>G | NP_001350654.1:p.Lys501Arg | |
| NM_001371656.1:c.3881A>G | NP_001358585.1:p.Lys1294Arg | |
| NM_001374820.1:c.3881A>G | NP_001361749.1:p.Lys1294Arg | |
| NM_001374828.1:c.4001A>G MANE Select | NP_001361757.1:p.Lys1334Arg | |
| NM_017519.3:c.3842A>G | NP_059989.3:p.Lys1281Arg |