Linked Data
ClinVar Variation Id:
199094
dbSNP Id:
rs377686388
ExAC:
4:159620167 T / C
gnomAD v2:
4-159620167-T-C
gnomAD v3:
4-158699015-T-C
gnomAD v4:
4-158699015-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158699015T>C , CM000666.2:g.158699015T>C | GRCh38 |
| NC_000004.11:g.159620167T>C , CM000666.1:g.159620167T>C | GRCh37 |
| NC_000004.10:g.159839617T>C | NCBI36 |
| NG_007078.2:g.31674T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.2537T>C | ||
| ENST00000682178.1:n.2033T>C | ||
| ENST00000682345.1:c.*701T>C | ENSP00000508122.1:n.*701T>C | |
| ENST00000682452.1:n.1332T>C | ||
| ENST00000682456.1:c.860T>C | ENSP00000508240.1:p.Leu287Pro | |
| ENST00000682566.1:n.1784T>C | ||
| ENST00000682613.1:n.1313T>C | ||
| ENST00000682734.1:c.-173T>C | ENSP00000507860.1:n.-173T>C | |
| ENST00000682820.1:n.1038T>C | ||
| ENST00000683004.1:c.*809+1316T>C | ENSP00000506936.1:n.*809+1316T>C | |
| ENST00000683079.1:c.*381T>C | ENSP00000507296.1:n.*381T>C | |
| ENST00000683081.1:c.*838T>C | ENSP00000507722.1:n.*838T>C | |
| ENST00000683181.1:n.235T>C | ||
| ENST00000683305.1:c.818T>C | ENSP00000508043.1:p.Leu273Pro | |
| ENST00000683448.1:c.506T>C | ENSP00000506931.1:p.Leu169Pro | |
| ENST00000683478.1:c.*352T>C | ENSP00000507793.1:n.*352T>C | |
| ENST00000683483.1:c.972+1316T>C | ENSP00000507719.1:n.972+1316T>C | |
| ENST00000683751.1:c.506T>C | ENSP00000506944.1:p.Leu169Pro | |
| ENST00000684036.1:c.818T>C | ENSP00000507276.1:p.Leu273Pro | |
| ENST00000684129.1:c.-218T>C | ENSP00000507174.1:n.-218T>C | |
| ENST00000684209.1:n.1376T>C | ||
| ENST00000684296.1:c.1001T>C | ENSP00000507740.1:p.Leu334Pro | |
| ENST00000684505.1:c.950T>C | ENSP00000508237.1:p.Leu317Pro | |
| ENST00000684552.1:c.1001T>C | ENSP00000506899.1:p.Leu334Pro | |
| ENST00000684611.1:n.2729T>C | ||
| ENST00000684622.1:c.1001T>C | ENSP00000507546.1:p.Leu334Pro | |
| ENST00000684627.1:c.818T>C | ENSP00000507471.1:p.Leu273Pro | |
| ENST00000684641.1:c.831+3372T>C | ENSP00000507642.1:n.831+3372T>C | |
| ENST00000684675.1:c.1001T>C | ENSP00000506934.1:p.Leu334Pro | |
| ENST00000684749.1:n.1070T>C | ||
| ENST00000511912.6:c.1001T>C MANE Select | ENSP00000426638.1:p.Leu334Pro | |
| ENST00000307738.5:c.860T>C | ENSP00000303552.5:p.Leu287Pro | |
| ENST00000506422.1:n.87-4408T>C | ||
| ENST00000511912.5:c.1001T>C | ENSP00000426638.1:p.Leu334Pro | |
| NM_001281737.1:c.860T>C | NP_001268666.1:p.Leu287Pro | |
| NM_001281738.1:c.818T>C | NP_001268667.1:p.Leu273Pro | |
| NM_004453.3:c.1001T>C | NP_004444.2:p.Leu334Pro | |
| XM_024453935.1:c.818T>C | XP_024309703.1:p.Leu273Pro | |
| NM_004453.4:c.1001T>C MANE Select | NP_004444.2:p.Leu334Pro | |
| NM_001281737.2:c.860T>C | NP_001268666.1:p.Leu287Pro |