Linked Data
ClinVar Variation Id:
2903684
ClinVar RCV Id:
RCV003726848
dbSNP Id:
rs773119970
ExAC:
6:157520001 C / T
gnomAD v2:
6-157520001-C-T
gnomAD v4:
6-157198867-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157198867C>T , CM000668.2:g.157198867C>T | GRCh38 |
| NC_000006.11:g.157520001C>T , CM000668.1:g.157520001C>T | GRCh37 |
| NC_000006.10:g.157561693C>T | NCBI36 |
| NG_032093.1:g.425938C>T | |
| NG_032093.2:g.425938C>T | |
| NG_066624.1:g.427842C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4280C>T | ENSP00000055163.8:p.Pro1427Leu | |
| ENST00000414678.8:c.4349C>T | ENSP00000412835.3:p.Pro1450Leu | |
| ENST00000637015.2:c.4568C>T | ENSP00000489729.2:p.Pro1523Leu | |
| ENST00000346085.10:c.4319C>T | ENSP00000344546.5:p.Pro1440Leu | |
| ENST00000350026.10:c.4031C>T | ENSP00000055163.7:p.Pro1344Leu | |
| ENST00000414678.7:c.2597C>T | ENSP00000412835.2:p.Pro866Leu | |
| ENST00000635849.1:c.1760C>T | ENSP00000490948.1:p.Pro587Leu | |
| ENST00000635957.1:c.1391C>T | ENSP00000490385.1:p.Pro464Leu | |
| ENST00000636227.1:n.2902C>T | ||
| ENST00000636254.1:n.359C>T | ||
| ENST00000636930.2:c.4439C>T MANE Select | ENSP00000490491.2:p.Pro1480Leu | |
| ENST00000636940.1:n.2436C>T | ||
| ENST00000637015.1:c.1807C>T | ||
| ENST00000637568.1:c.1721C>T | ||
| ENST00000637741.1:n.1105C>T | ||
| ENST00000637810.1:c.1781C>T | ENSP00000489636.1:p.Pro594Leu | |
| ENST00000637904.1:c.1940C>T | ENSP00000490550.1:p.Pro647Leu | |
| ENST00000647938.1:c.4070C>T | ENSP00000498155.1:p.Pro1357Leu | |
| ENST00000346085.9:c.4070C>T | ENSP00000344546.4:p.Pro1357Leu | |
| ENST00000350026.9:c.4031C>T | ENSP00000055163.7:p.Pro1344Leu | |
| ENST00000414678.6:c.2597C>T | ENSP00000412835.2:p.Pro866Leu | |
| NM_017519.2:c.4031C>T | NP_059989.2:p.Pro1344Leu | |
| NM_020732.3:c.4070C>T | NP_065783.3:p.Pro1357Leu | |
| XM_005267069.3:c.4190C>T | XP_005267126.2:p.Pro1397Leu | |
| XM_011535984.1:c.3269C>T | XP_011534286.1:p.Pro1090Leu | |
| XM_011535985.1:c.3089C>T | XP_011534287.1:p.Pro1030Leu | |
| XM_011535986.1:c.2849C>T | XP_011534288.1:p.Pro950Leu | |
| XM_011535987.1:c.2468C>T | XP_011534289.1:p.Pro823Leu | |
| XM_011535988.1:c.1331C>T | XP_011534290.1:p.Pro444Leu | |
| NM_001346813.1:c.4190C>T | NP_001333742.1:p.Pro1397Leu | |
| NM_001363725.1:c.1940C>T | NP_001350654.1:p.Pro647Leu | |
| XM_011535984.2:c.4400C>T | XP_011534286.2:p.Pro1467Leu | |
| XM_011535988.3:c.1331C>T | XP_011534290.1:p.Pro444Leu | |
| XM_017011103.2:c.4301C>T | XP_016866592.1:p.Pro1434Leu | |
| XM_017011104.1:c.4271C>T | XP_016866593.1:p.Pro1424Leu | |
| XM_017011105.2:c.4241C>T | XP_016866594.1:p.Pro1414Leu | |
| XM_017011106.2:c.4112C>T | XP_016866595.1:p.Pro1371Leu | |
| XM_017011107.2:c.4091C>T | XP_016866596.1:p.Pro1364Leu | |
| XR_002956289.1:n.4427-1838C>T | ||
| NM_001363725.2:c.1940C>T | NP_001350654.1:p.Pro647Leu | |
| NM_001371656.1:c.4319C>T | NP_001358585.1:p.Pro1440Leu | |
| NM_001374820.1:c.4319C>T | NP_001361749.1:p.Pro1440Leu | |
| NM_001374828.1:c.4439C>T MANE Select | NP_001361757.1:p.Pro1480Leu | |
| NM_017519.3:c.4280C>T | NP_059989.3:p.Pro1427Leu |