Linked Data
dbSNP Id:
rs778160923
ExAC:
6:157522200 C / T
gnomAD v2:
6-157522200-C-T
gnomAD v4:
6-157201066-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201066C>T , CM000668.2:g.157201066C>T | GRCh38 |
| NC_000006.11:g.157522200C>T , CM000668.1:g.157522200C>T | GRCh37 |
| NC_000006.10:g.157563892C>T | NCBI36 |
| NG_032093.1:g.428137C>T | |
| NG_032093.2:g.428137C>T | |
| NG_066624.1:g.430041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4682C>T | ENSP00000055163.8:p.Pro1561Leu | |
| ENST00000414678.8:c.4751C>T | ENSP00000412835.3:p.Pro1584Leu | |
| ENST00000637015.2:c.4970C>T | ENSP00000489729.2:p.Pro1657Leu | |
| ENST00000346085.10:c.4721C>T | ENSP00000344546.5:p.Pro1574Leu | |
| ENST00000350026.10:c.4433C>T | ENSP00000055163.7:p.Pro1478Leu | |
| ENST00000414678.7:c.2999C>T | ENSP00000412835.2:p.Pro1000Leu | |
| ENST00000635849.1:c.2162C>T | ENSP00000490948.1:p.Pro721Leu | |
| ENST00000635957.1:c.1793C>T | ENSP00000490385.1:p.Pro598Leu | |
| ENST00000636227.1:n.3304C>T | ||
| ENST00000636254.1:n.761C>T | ||
| ENST00000636930.2:c.4841C>T MANE Select | ENSP00000490491.2:p.Pro1614Leu | |
| ENST00000636940.1:n.2838C>T | ||
| ENST00000637015.1:c.2209C>T | ||
| ENST00000637568.1:c.2123C>T | ||
| ENST00000637741.1:n.1507C>T | ||
| ENST00000637810.1:c.2183C>T | ENSP00000489636.1:p.Pro728Leu | |
| ENST00000637904.1:c.2342C>T | ENSP00000490550.1:p.Pro781Leu | |
| ENST00000647938.1:c.4472C>T | ENSP00000498155.1:p.Pro1491Leu | |
| ENST00000346085.9:c.4472C>T | ENSP00000344546.4:p.Pro1491Leu | |
| ENST00000350026.9:c.4433C>T | ENSP00000055163.7:p.Pro1478Leu | |
| ENST00000414678.6:c.2999C>T | ENSP00000412835.2:p.Pro1000Leu | |
| NM_017519.2:c.4433C>T | NP_059989.2:p.Pro1478Leu | |
| NM_020732.3:c.4472C>T | NP_065783.3:p.Pro1491Leu | |
| XM_005267069.3:c.4592C>T | XP_005267126.2:p.Pro1531Leu | |
| XM_011535984.1:c.3671C>T | XP_011534286.1:p.Pro1224Leu | |
| XM_011535985.1:c.3491C>T | XP_011534287.1:p.Pro1164Leu | |
| XM_011535986.1:c.3251C>T | XP_011534288.1:p.Pro1084Leu | |
| XM_011535987.1:c.2870C>T | XP_011534289.1:p.Pro957Leu | |
| XM_011535988.1:c.1733C>T | XP_011534290.1:p.Pro578Leu | |
| NM_001346813.1:c.4592C>T | NP_001333742.1:p.Pro1531Leu | |
| NM_001363725.1:c.2342C>T | NP_001350654.1:p.Pro781Leu | |
| XM_011535984.2:c.4802C>T | XP_011534286.2:p.Pro1601Leu | |
| XM_011535988.3:c.1733C>T | XP_011534290.1:p.Pro578Leu | |
| XM_017011103.2:c.4703C>T | XP_016866592.1:p.Pro1568Leu | |
| XM_017011104.1:c.4673C>T | XP_016866593.1:p.Pro1558Leu | |
| XM_017011105.2:c.4643C>T | XP_016866594.1:p.Pro1548Leu | |
| XM_017011106.2:c.4514C>T | XP_016866595.1:p.Pro1505Leu | |
| XM_017011107.2:c.4493C>T | XP_016866596.1:p.Pro1498Leu | |
| XR_002956289.1:n.4788C>T | ||
| NM_001363725.2:c.2342C>T | NP_001350654.1:p.Pro781Leu | |
| NM_001371656.1:c.4721C>T | NP_001358585.1:p.Pro1574Leu | |
| NM_001374820.1:c.4721C>T | NP_001361749.1:p.Pro1574Leu | |
| NM_001374828.1:c.4841C>T MANE Select | NP_001361757.1:p.Pro1614Leu | |
| NM_017519.3:c.4682C>T | NP_059989.3:p.Pro1561Leu |