Linked Data
ClinVar Variation Id:
31602
dbSNP Id:
rs377656387
ExAC:
4:159627503 C / T
gnomAD v2:
4-159627503-C-T
gnomAD v3:
4-158706351-C-T
gnomAD v4:
4-158706351-C-T
PubMed:
PMID:17412732
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158706351C>T , CM000666.2:g.158706351C>T | GRCh38 |
| NC_000004.11:g.159627503C>T , CM000666.1:g.159627503C>T | GRCh37 |
| NC_000004.10:g.159846953C>T | NCBI36 |
| NG_007078.2:g.39010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.2984C>T | ||
| ENST00000682178.1:n.2480C>T | ||
| ENST00000682345.1:c.*1148C>T | ENSP00000508122.1:n.*1148C>T | |
| ENST00000682452.1:n.1779C>T | ||
| ENST00000682456.1:c.1307C>T | ENSP00000508240.1:p.Pro436Leu | |
| ENST00000682566.1:n.2231C>T | ||
| ENST00000682613.1:n.1760C>T | ||
| ENST00000682734.1:c.275C>T | ENSP00000507860.1:p.Pro92Leu | |
| ENST00000682820.1:n.1485C>T | ||
| ENST00000683004.1:c.*1141C>T | ENSP00000506936.1:n.*1141C>T | |
| ENST00000683079.1:c.*873C>T | ENSP00000507296.1:n.*873C>T | |
| ENST00000683081.1:c.*1285C>T | ENSP00000507722.1:n.*1285C>T | |
| ENST00000683181.1:n.727C>T | ||
| ENST00000683209.1:n.3774C>T | ||
| ENST00000683305.1:c.1265C>T | ENSP00000508043.1:p.Pro422Leu | |
| ENST00000683448.1:c.*368C>T | ENSP00000506931.1:n.*368C>T | |
| ENST00000683478.1:c.*799C>T | ENSP00000507793.1:n.*799C>T | |
| ENST00000683483.1:c.1304C>T | ENSP00000507719.1:p.Pro435Leu | |
| ENST00000683622.1:n.1162C>T | ||
| ENST00000683751.1:c.953C>T | ENSP00000506944.1:p.Pro318Leu | |
| ENST00000684036.1:c.1265C>T | ENSP00000507276.1:p.Pro422Leu | |
| ENST00000684129.1:c.275C>T | ENSP00000507174.1:p.Pro92Leu | |
| ENST00000684209.1:n.1823C>T | ||
| ENST00000684296.1:c.*368C>T | ENSP00000507740.1:n.*368C>T | |
| ENST00000684505.1:c.1397C>T | ENSP00000508237.1:p.Pro466Leu | |
| ENST00000684552.1:c.*2867C>T | ENSP00000506899.1:n.*2867C>T | |
| ENST00000684611.1:n.3176C>T | ||
| ENST00000684622.1:c.1448C>T | ENSP00000507546.1:p.Pro483Leu | |
| ENST00000684627.1:c.1265C>T | ENSP00000507471.1:p.Pro422Leu | |
| ENST00000684641.1:c.1163C>T | ENSP00000507642.1:p.Pro388Leu | |
| ENST00000684675.1:c.*295C>T | ENSP00000506934.1:n.*295C>T | |
| ENST00000684749.1:n.1517C>T | ||
| ENST00000511912.6:c.1448C>T MANE Select | ENSP00000426638.1:p.Pro483Leu | |
| ENST00000307738.5:c.1307C>T | ENSP00000303552.5:p.Pro436Leu | |
| ENST00000506422.1:n.418C>T | ||
| ENST00000511912.5:c.1448C>T | ENSP00000426638.1:p.Pro483Leu | |
| NM_001281737.1:c.1307C>T | NP_001268666.1:p.Pro436Leu | |
| NM_001281738.1:c.1265C>T | NP_001268667.1:p.Pro422Leu | |
| NM_004453.3:c.1448C>T | NP_004444.2:p.Pro483Leu | |
| XM_024453935.1:c.1265C>T | XP_024309703.1:p.Pro422Leu | |
| NM_004453.4:c.1448C>T MANE Select | NP_004444.2:p.Pro483Leu | |
| NM_001281737.2:c.1307C>T | NP_001268666.1:p.Pro436Leu |