Linked Data
ClinVar Variation Id:
1852
ClinVar RCV Id:
RCV000001926
dbSNP Id:
rs121434360
gnomAD v3:
2-241767734-T-C
gnomAD v4:
2-241767734-T-C
PubMed:
PMID:15609246
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767734T>C , CM000664.2:g.241767734T>C | GRCh38 |
| NC_000002.11:g.242707149T>C , CM000664.1:g.242707149T>C | GRCh37 |
| NC_000002.10:g.242355822T>C | NCBI36 |
| NG_012012.1:g.38120T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321264.9:c.1331T>C MANE Select | ENSP00000315351.4:p.Val444Ala | |
| ENST00000321264.8:c.1331T>C | ENSP00000315351.4:p.Val444Ala | |
| ENST00000400769.6:c.*81T>C | ENSP00000383580.2:n.*81T>C | |
| ENST00000403782.5:c.929T>C | ENSP00000384723.1:p.Val310Ala | |
| ENST00000436747.5:c.*2567T>C | ENSP00000400212.1:n.*2567T>C | |
| ENST00000445308.1:c.727T>C | ||
| ENST00000468064.5:n.1221T>C | ||
| ENST00000470343.5:n.812T>C | ||
| ENST00000473126.1:n.530T>C | ||
| ENST00000486953.5:n.1155T>C | ||
| ENST00000610344.1:c.*175T>C | ENSP00000481906.1:n.*175T>C | |
| NM_001287249.1:c.929T>C | NP_001274178.1:p.Val310Ala | |
| NM_152783.4:c.1331T>C | NP_689996.4:p.Val444Ala | |
| NR_109778.1:n.1253T>C | ||
| XM_011511734.1:c.1451T>C | XP_011510036.1:p.Val484Ala | |
| XM_011511735.1:c.1409T>C | XP_011510037.1:p.Val470Ala | |
| XM_011511736.1:c.1373T>C | XP_011510038.1:p.Val458Ala | |
| XM_011511744.1:c.*63T>C | XP_011510046.1:n.*63T>C | |
| XM_011511750.1:c.1243T>C | XP_011510052.1:p.Ter415Arg | |
| XM_011511754.1:c.890T>C | XP_011510056.1:p.Val297Ala | |
| XM_011511755.1:c.881T>C | XP_011510057.1:p.Val294Ala | |
| XM_011511756.1:c.878T>C | XP_011510058.1:p.Val293Ala | |
| XR_923004.1:n.1963T>C | ||
| XR_923007.1:n.1673T>C | ||
| XR_923011.1:n.1774T>C | ||
| NM_001352824.1:c.770T>C | NP_001339753.1:p.Val257Ala | |
| XM_011511734.2:c.1451T>C | XP_011510036.1:p.Val484Ala | |
| XM_011511735.2:c.1409T>C | XP_011510037.1:p.Val470Ala | |
| XM_011511736.2:c.1373T>C | XP_011510038.1:p.Val458Ala | |
| XM_011511744.2:c.*63T>C | XP_011510046.1:n.*63T>C | |
| XM_011511750.3:c.1243T>C | XP_011510052.1:p.Ter415Arg | |
| XM_011511756.2:c.878T>C | XP_011510058.1:p.Val293Ala | |
| XM_024453102.1:c.1223T>C | XP_024308870.1:p.Val408Ala | |
| XR_001738918.2:n.1705T>C | ||
| XR_001738919.2:n.1639T>C | ||
| XR_923004.3:n.1962T>C | ||
| XR_923007.3:n.1672T>C | ||
| XR_923011.3:n.1773T>C | ||
| NM_152783.5:c.1331T>C MANE Select | NP_689996.4:p.Val444Ala | |
| NM_001287249.2:c.929T>C | NP_001274178.1:p.Val310Ala | |
| NM_001352824.2:c.770T>C | NP_001339753.1:p.Val257Ala | |
| NR_109778.2:n.1202T>C |