Linked Data
ClinVar Variation Id:
229634
dbSNP Id:
rs773900146
ExAC:
4:6302559 C / T
gnomAD v2:
4-6302559-C-T
gnomAD v3:
4-6300832-C-T
gnomAD v4:
4-6300832-C-T
PubMed:
PMID:17568405
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300832C>T , CM000666.2:g.6300832C>T | GRCh38 |
| NC_000004.11:g.6302559C>T , CM000666.1:g.6302559C>T | GRCh37 |
| NC_000004.10:g.6353460C>T | NCBI36 |
| NG_011700.1:g.35983C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1073C>T | ENSP00000507852.1:p.Pro358Leu | |
| ENST00000683395.1:c.1014C>T | ||
| ENST00000684087.1:c.1037C>T | ENSP00000506978.1:p.Pro346Leu | |
| ENST00000506362.2:c.788C>T | ENSP00000424103.2:p.Pro263Leu | |
| ENST00000673642.1:c.696C>T | ENSP00000501242.1:p.Pro232= | |
| ENST00000673991.1:c.1073C>T | ENSP00000501033.1:p.Pro358Leu | |
| ENST00000226760.5:c.1037C>T MANE Select | ENSP00000226760.1:p.Pro346Leu | |
| ENST00000503569.5:c.1037C>T | ENSP00000423337.1:p.Pro346Leu | |
| ENST00000506362.1:c.670C>T | ||
| ENST00000507765.1:n.1222C>T | ||
| NM_001145853.1:c.1037C>T | NP_001139325.1:p.Pro346Leu | |
| NM_006005.3:c.1037C>T MANE Select | NP_005996.2:p.Pro346Leu | |
| XM_017008586.1:c.1046C>T | XP_016864075.1:p.Pro349Leu |