Linked Data
ClinVar Variation Id:
46858
ClinVar RCV Id:
RCV000040128
RCV000233950
RCV000725168
RCV001134533
RCV001134534
RCV001134535
RCV001135959
RCV001135960
RCV004528207
dbSNP Id:
rs200213832
ExAC:
2:179554549 G / C
gnomAD v2:
2-179554549-G-C
gnomAD v3:
2-178689822-G-C
gnomAD v4:
2-178689822-G-C
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178689822G>C , CM000664.2:g.178689822G>C | GRCh38 |
| NC_000002.11:g.179554549G>C , CM000664.1:g.179554549G>C | GRCh37 |
| NC_000002.10:g.179262794G>C | NCBI36 |
| NG_011618.3:g.145981C>G , LRG_391:g.145981C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.28105C>G | ENSP00000343764.6:p.Pro9369Ala | |
| ENST00000342175.11:c.13859-47505C>G | ENSP00000340554.6:n.13859-47505C>G | |
| ENST00000359218.10:c.13658-47505C>G | ENSP00000352154.5:n.13658-47505C>G | |
| ENST00000342175.10:c.13859-47505C>G | ENSP00000340554.6:n.13859-47505C>G | |
| ENST00000342992.10:c.28105C>G | ENSP00000343764.6:p.Pro9369Ala | |
| ENST00000359218.9:c.13658-47505C>G | ENSP00000352154.5:n.13658-47505C>G | |
| ENST00000414766.5:c.1471C>G | ENSP00000401501.1:p.Pro491Ala | |
| ENST00000460472.6:c.13283-47505C>G | ENSP00000434586.1:n.13283-47505C>G | |
| ENST00000589042.5:c.31837C>G MANE Select | ENSP00000467141.1:p.Pro10613Ala | |
| ENST00000591111.5:c.30886C>G | ENSP00000465570.1:p.Pro10296Ala | |
| ENST00000615779.4:c.30886C>G | ENSP00000483597.1:p.Pro10296Ala | |
| NM_001256850.1:c.30886C>G | NP_001243779.1:p.Pro10296Ala | |
| NM_001267550.2:c.31837C>G MANE Select | NP_001254479.2:p.Pro10613Ala | |
| NM_003319.4:c.13283-47505C>G | NP_003310.4:n.13283-47505C>G | |
| NM_133378.4:c.28105C>G | NP_596869.4:p.Pro9369Ala | |
| NM_133432.3:c.13658-47505C>G | NP_597676.3:n.13658-47505C>G | |
| NM_133437.4:c.13859-47505C>G | NP_597681.4:n.13859-47505C>G | |
| XM_011511729.1:c.30934C>G | XP_011510031.1:p.Pro10312Ala | |
| XM_011511730.1:c.13469-47505C>G | XP_011510032.1:n.13469-47505C>G | |
| XM_011511731.1:c.13328-47505C>G | XP_011510033.1:n.13328-47505C>G | |
| XM_017004819.1:c.30889C>G | XP_016860308.1:p.Pro10297Ala | |
| XM_017004820.1:c.28108C>G | XP_016860309.1:p.Pro9370Ala | |
| XM_017004821.1:c.28105C>G | XP_016860310.1:p.Pro9369Ala | |
| XM_017004822.1:c.30889C>G | XP_016860311.1:p.Pro10297Ala | |
| XM_017004823.1:c.13424-47505C>G | XP_016860312.1:n.13424-47505C>G | |
| XM_024453094.1:c.30889C>G | XP_024308862.1:p.Pro10297Ala | |
| XM_024453095.1:c.30889C>G | XP_024308863.1:p.Pro10297Ala | |
| XM_024453096.1:c.30889C>G | XP_024308864.1:p.Pro10297Ala | |
| XM_024453097.1:c.30889C>G | XP_024308865.1:p.Pro10297Ala | |
| XM_024453098.1:c.30889C>G | XP_024308866.1:p.Pro10297Ala | |
| XM_024453099.1:c.13424-47505C>G | XP_024308867.1:n.13424-47505C>G |