Linked Data
ClinVar Variation Id:
1328251
ClinVar RCV Id:
RCV001795683
dbSNP Id:
rs1187357394
gnomAD v3:
6-157190070-C-T
gnomAD v4:
6-157190070-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157190070C>T , CM000668.2:g.157190070C>T | GRCh38 |
| NC_000006.11:g.157511204C>T , CM000668.1:g.157511204C>T | GRCh37 |
| NC_000006.10:g.157552896C>T | NCBI36 |
| NG_032093.1:g.417141C>T | |
| NG_032093.2:g.417141C>T | |
| NG_066624.1:g.419045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3932C>T | ENSP00000055163.8:p.Ser1311Leu | |
| ENST00000414678.8:c.4001C>T | ENSP00000412835.3:p.Ser1334Leu | |
| ENST00000637015.2:c.4220C>T | ENSP00000489729.2:p.Ser1407Leu | |
| ENST00000346085.10:c.3971C>T | ENSP00000344546.5:p.Ser1324Leu | |
| ENST00000350026.10:c.3683C>T | ENSP00000055163.7:p.Ser1228Leu | |
| ENST00000414678.7:c.2249C>T | ENSP00000412835.2:p.Ser750Leu | |
| ENST00000635849.1:c.1412C>T | ENSP00000490948.1:p.Ser471Leu | |
| ENST00000635957.1:c.1043C>T | ENSP00000490385.1:p.Ser348Leu | |
| ENST00000636930.2:c.4091C>T MANE Select | ENSP00000490491.2:p.Ser1364Leu | |
| ENST00000636940.1:n.2088C>T | ||
| ENST00000637015.1:c.1459C>T | ||
| ENST00000637568.1:c.1373C>T | ||
| ENST00000637741.1:n.757C>T | ||
| ENST00000637810.1:c.1433C>T | ENSP00000489636.1:p.Ser478Leu | |
| ENST00000637904.1:c.1592C>T | ENSP00000490550.1:p.Ser531Leu | |
| ENST00000647938.1:c.3722C>T | ENSP00000498155.1:p.Ser1241Leu | |
| ENST00000346085.9:c.3722C>T | ENSP00000344546.4:p.Ser1241Leu | |
| ENST00000350026.9:c.3683C>T | ENSP00000055163.7:p.Ser1228Leu | |
| ENST00000414678.6:c.2249C>T | ENSP00000412835.2:p.Ser750Leu | |
| NM_017519.2:c.3683C>T | NP_059989.2:p.Ser1228Leu | |
| NM_020732.3:c.3722C>T | NP_065783.3:p.Ser1241Leu | |
| XM_005267069.3:c.3842C>T | XP_005267126.2:p.Ser1281Leu | |
| XM_011535984.1:c.2921C>T | XP_011534286.1:p.Ser974Leu | |
| XM_011535985.1:c.2741C>T | XP_011534287.1:p.Ser914Leu | |
| XM_011535986.1:c.2501C>T | XP_011534288.1:p.Ser834Leu | |
| XM_011535987.1:c.2120C>T | XP_011534289.1:p.Ser707Leu | |
| XM_011535988.1:c.983C>T | XP_011534290.1:p.Ser328Leu | |
| NM_001346813.1:c.3842C>T | NP_001333742.1:p.Ser1281Leu | |
| NM_001363725.1:c.1592C>T | NP_001350654.1:p.Ser531Leu | |
| XM_011535984.2:c.4052C>T | XP_011534286.2:p.Ser1351Leu | |
| XM_011535988.3:c.983C>T | XP_011534290.1:p.Ser328Leu | |
| XM_017011103.2:c.3953C>T | XP_016866592.1:p.Ser1318Leu | |
| XM_017011104.1:c.3923C>T | XP_016866593.1:p.Ser1308Leu | |
| XM_017011105.2:c.3893C>T | XP_016866594.1:p.Ser1298Leu | |
| XM_017011106.2:c.3764C>T | XP_016866595.1:p.Ser1255Leu | |
| XM_017011107.2:c.3743C>T | XP_016866596.1:p.Ser1248Leu | |
| XR_002956289.1:n.4135C>T | ||
| NM_001363725.2:c.1592C>T | NP_001350654.1:p.Ser531Leu | |
| NM_001371656.1:c.3971C>T | NP_001358585.1:p.Ser1324Leu | |
| NM_001374820.1:c.3971C>T | NP_001361749.1:p.Ser1324Leu | |
| NM_001374828.1:c.4091C>T MANE Select | NP_001361757.1:p.Ser1364Leu | |
| NM_017519.3:c.3932C>T | NP_059989.3:p.Ser1311Leu |