Linked Data
ClinVar Variation Id:
31601
dbSNP Id:
rs387907170
ExAC:
4:159624588 T / C
gnomAD v2:
4-159624588-T-C
gnomAD v4:
4-158703436-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158703436T>C , CM000666.2:g.158703436T>C | GRCh38 |
| NC_000004.11:g.159624588T>C , CM000666.1:g.159624588T>C | GRCh37 |
| NC_000004.10:g.159844038T>C | NCBI36 |
| NG_007078.2:g.36095T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.2666T>C | ||
| ENST00000682178.1:n.2162T>C | ||
| ENST00000682345.1:c.*830T>C | ENSP00000508122.1:n.*830T>C | |
| ENST00000682452.1:n.1461T>C | ||
| ENST00000682456.1:c.989T>C | ENSP00000508240.1:p.Leu330Pro | |
| ENST00000682566.1:n.1913T>C | ||
| ENST00000682613.1:n.1442T>C | ||
| ENST00000682734.1:c.-44T>C | ENSP00000507860.1:n.-44T>C | |
| ENST00000682820.1:n.1167T>C | ||
| ENST00000683004.1:c.*823T>C | ENSP00000506936.1:n.*823T>C | |
| ENST00000683079.1:c.*555T>C | ENSP00000507296.1:n.*555T>C | |
| ENST00000683081.1:c.*967T>C | ENSP00000507722.1:n.*967T>C | |
| ENST00000683181.1:n.409T>C | ||
| ENST00000683209.1:n.3456T>C | ||
| ENST00000683305.1:c.947T>C | ENSP00000508043.1:p.Leu316Pro | |
| ENST00000683448.1:c.*50T>C | ENSP00000506931.1:n.*50T>C | |
| ENST00000683478.1:c.*481T>C | ENSP00000507793.1:n.*481T>C | |
| ENST00000683483.1:c.986T>C | ENSP00000507719.1:p.Leu329Pro | |
| ENST00000683622.1:n.844T>C | ||
| ENST00000683751.1:c.635T>C | ENSP00000506944.1:p.Leu212Pro | |
| ENST00000684036.1:c.947T>C | ENSP00000507276.1:p.Leu316Pro | |
| ENST00000684129.1:c.-44T>C | ENSP00000507174.1:n.-44T>C | |
| ENST00000684209.1:n.1505T>C | ||
| ENST00000684296.1:c.*50T>C | ENSP00000507740.1:n.*50T>C | |
| ENST00000684505.1:c.1079T>C | ENSP00000508237.1:p.Leu360Pro | |
| ENST00000684552.1:c.*50T>C | ENSP00000506899.1:n.*50T>C | |
| ENST00000684611.1:n.2858T>C | ||
| ENST00000684622.1:c.1130T>C | ENSP00000507546.1:p.Leu377Pro | |
| ENST00000684627.1:c.947T>C | ENSP00000507471.1:p.Leu316Pro | |
| ENST00000684641.1:c.845T>C | ENSP00000507642.1:p.Leu282Pro | |
| ENST00000684675.1:c.1171T>C | ENSP00000506934.1:p.Ser391Pro | |
| ENST00000684749.1:n.1199T>C | ||
| ENST00000511912.6:c.1130T>C MANE Select | ENSP00000426638.1:p.Leu377Pro | |
| ENST00000307738.5:c.989T>C | ENSP00000303552.5:p.Leu330Pro | |
| ENST00000506422.1:n.100T>C | ||
| ENST00000511912.5:c.1130T>C | ENSP00000426638.1:p.Leu377Pro | |
| NM_001281737.1:c.989T>C | NP_001268666.1:p.Leu330Pro | |
| NM_001281738.1:c.947T>C | NP_001268667.1:p.Leu316Pro | |
| NM_004453.3:c.1130T>C | NP_004444.2:p.Leu377Pro | |
| XM_024453935.1:c.947T>C | XP_024309703.1:p.Leu316Pro | |
| NM_004453.4:c.1130T>C MANE Select | NP_004444.2:p.Leu377Pro | |
| NM_001281737.2:c.989T>C | NP_001268666.1:p.Leu330Pro |