Linked Data
ClinVar Variation Id:
1806183
ClinVar RCV Id:
RCV002470467
dbSNP Id:
rs113994076
gnomAD v2:
3-183859820-C-T
gnomAD v4:
3-184142032-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184142032C>T , CM000665.2:g.184142032C>T | GRCh38 |
| NC_000003.11:g.183859820C>T , CM000665.1:g.183859820C>T | GRCh37 |
| NC_000003.10:g.185342514C>T | NCBI36 |
| NG_015826.1:g.12011C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465218.3:n.1287C>T | ||
| ENST00000468748.7:n.1507C>T | ||
| ENST00000484154.2:n.1494C>T | ||
| ENST00000491008.6:n.2012C>T | ||
| ENST00000492226.2:n.1531C>T | ||
| ENST00000492773.6:c.1018C>T | ||
| ENST00000647636.1:c.*113C>T | ENSP00000497505.1:n.*113C>T | |
| ENST00000647909.1:c.1288C>T | ENSP00000498164.1:p.Arg430Ter | |
| ENST00000648145.1:c.1036C>T | ||
| ENST00000648189.1:c.1082C>T | ||
| ENST00000648256.1:c.1236C>T | ENSP00000497356.1:n.1236C>T | |
| ENST00000648314.1:c.*383C>T | ENSP00000496920.1:n.*383C>T | |
| ENST00000648599.1:c.*547C>T | ENSP00000497159.1:n.*547C>T | |
| ENST00000648630.1:c.1143C>T | ENSP00000497887.1:p.Asn381= | |
| ENST00000648682.1:c.*104C>T | ENSP00000498185.1:n.*104C>T | |
| ENST00000648882.1:c.*1090C>T | ENSP00000497603.1:n.*1090C>T | |
| ENST00000648890.1:c.1264C>T | ENSP00000497503.1:p.Arg422Ter | |
| ENST00000648915.2:c.1264C>T MANE Select | ENSP00000497160.1:p.Arg422Ter | |
| ENST00000649545.1:c.685C>T | ||
| ENST00000649688.1:c.*557C>T | ENSP00000497097.1:n.*557C>T | |
| ENST00000649814.1:n.1313C>T | ||
| ENST00000650270.1:c.1131C>T | ||
| ENST00000273783.7:c.1264C>T | ENSP00000273783.3:p.Arg422Ter | |
| ENST00000432982.5:c.246-205C>T | ||
| ENST00000444495.1:c.1264C>T | ENSP00000409142.1:p.Arg422Ter | |
| ENST00000479833.1:n.465C>T | ||
| ENST00000481054.5:n.1358C>T | ||
| ENST00000491144.5:n.1768C>T | ||
| ENST00000492773.5:n.147C>T | ||
| NM_003907.2:c.1264C>T | NP_003898.2:p.Arg422Ter | |
| XM_011513265.1:c.514C>T | XP_011511567.1:p.Arg172Ter | |
| XM_011513266.1:c.427C>T | XP_011511568.1:p.Arg143Ter | |
| XR_924208.1:n.2215C>T | ||
| NM_003907.3:c.1264C>T MANE Select | NP_003898.2:p.Arg422Ter | |
| XM_011513266.3:c.427C>T | XP_011511568.1:p.Arg143Ter | |
| XR_001740352.2:n.1627C>T | ||
| XR_001740353.2:n.1627C>T | ||
| XR_924208.2:n.1627C>T |