Linked Data
dbSNP Id:
rs779516798
ExAC:
6:157511258 C / T
gnomAD v2:
6-157511258-C-T
gnomAD v4:
6-157190124-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157190124C>T , CM000668.2:g.157190124C>T | GRCh38 |
| NC_000006.11:g.157511258C>T , CM000668.1:g.157511258C>T | GRCh37 |
| NC_000006.10:g.157552950C>T | NCBI36 |
| NG_032093.1:g.417195C>T | |
| NG_032093.2:g.417195C>T | |
| NG_066624.1:g.419099C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3986C>T | ENSP00000055163.8:p.Pro1329Leu | |
| ENST00000414678.8:c.4055C>T | ENSP00000412835.3:p.Pro1352Leu | |
| ENST00000637015.2:c.4274C>T | ENSP00000489729.2:p.Pro1425Leu | |
| ENST00000346085.10:c.4025C>T | ENSP00000344546.5:p.Pro1342Leu | |
| ENST00000350026.10:c.3737C>T | ENSP00000055163.7:p.Pro1246Leu | |
| ENST00000414678.7:c.2303C>T | ENSP00000412835.2:p.Pro768Leu | |
| ENST00000635849.1:c.1466C>T | ENSP00000490948.1:p.Pro489Leu | |
| ENST00000635957.1:c.1097C>T | ENSP00000490385.1:p.Pro366Leu | |
| ENST00000636930.2:c.4145C>T MANE Select | ENSP00000490491.2:p.Pro1382Leu | |
| ENST00000636940.1:n.2142C>T | ||
| ENST00000637015.1:c.1513C>T | ||
| ENST00000637568.1:c.1427C>T | ||
| ENST00000637741.1:n.811C>T | ||
| ENST00000637810.1:c.1487C>T | ENSP00000489636.1:p.Pro496Leu | |
| ENST00000637904.1:c.1646C>T | ENSP00000490550.1:p.Pro549Leu | |
| ENST00000647938.1:c.3776C>T | ENSP00000498155.1:p.Pro1259Leu | |
| ENST00000346085.9:c.3776C>T | ENSP00000344546.4:p.Pro1259Leu | |
| ENST00000350026.9:c.3737C>T | ENSP00000055163.7:p.Pro1246Leu | |
| ENST00000414678.6:c.2303C>T | ENSP00000412835.2:p.Pro768Leu | |
| NM_017519.2:c.3737C>T | NP_059989.2:p.Pro1246Leu | |
| NM_020732.3:c.3776C>T | NP_065783.3:p.Pro1259Leu | |
| XM_005267069.3:c.3896C>T | XP_005267126.2:p.Pro1299Leu | |
| XM_011535984.1:c.2975C>T | XP_011534286.1:p.Pro992Leu | |
| XM_011535985.1:c.2795C>T | XP_011534287.1:p.Pro932Leu | |
| XM_011535986.1:c.2555C>T | XP_011534288.1:p.Pro852Leu | |
| XM_011535987.1:c.2174C>T | XP_011534289.1:p.Pro725Leu | |
| XM_011535988.1:c.1037C>T | XP_011534290.1:p.Pro346Leu | |
| NM_001346813.1:c.3896C>T | NP_001333742.1:p.Pro1299Leu | |
| NM_001363725.1:c.1646C>T | NP_001350654.1:p.Pro549Leu | |
| XM_011535984.2:c.4106C>T | XP_011534286.2:p.Pro1369Leu | |
| XM_011535988.3:c.1037C>T | XP_011534290.1:p.Pro346Leu | |
| XM_017011103.2:c.4007C>T | XP_016866592.1:p.Pro1336Leu | |
| XM_017011104.1:c.3977C>T | XP_016866593.1:p.Pro1326Leu | |
| XM_017011105.2:c.3947C>T | XP_016866594.1:p.Pro1316Leu | |
| XM_017011106.2:c.3818C>T | XP_016866595.1:p.Pro1273Leu | |
| XM_017011107.2:c.3797C>T | XP_016866596.1:p.Pro1266Leu | |
| XR_002956289.1:n.4189C>T | ||
| NM_001363725.2:c.1646C>T | NP_001350654.1:p.Pro549Leu | |
| NM_001371656.1:c.4025C>T | NP_001358585.1:p.Pro1342Leu | |
| NM_001374820.1:c.4025C>T | NP_001361749.1:p.Pro1342Leu | |
| NM_001374828.1:c.4145C>T MANE Select | NP_001361757.1:p.Pro1382Leu | |
| NM_017519.3:c.3986C>T | NP_059989.3:p.Pro1329Leu |