Linked Data
ClinVar Variation Id:
507225
ClinVar RCV Id:
RCV000604282
dbSNP Id:
rs755761580
ExAC:
3:142281506 G / A
gnomAD v2:
3-142281506-G-A
gnomAD v3:
3-142562664-G-A
gnomAD v4:
3-142562664-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142562664G>A , CM000665.2:g.142562664G>A | GRCh38 |
| NC_000003.11:g.142281506G>A , CM000665.1:g.142281506G>A | GRCh37 |
| NC_000003.10:g.143764196G>A | NCBI36 |
| NG_008951.1:g.21163C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.738C>T MANE Select | ENSP00000343741.4:p.Ser246= | |
| ENST00000515149.3:c.293-1243C>T | ENSP00000425897.3:n.293-1243C>T | |
| ENST00000653868.1:n.767C>T | ||
| ENST00000657914.1:n.3096C>T | ||
| ENST00000659195.1:n.2803C>T | ||
| ENST00000661310.1:c.738C>T | ENSP00000499589.1:p.Ser246= | |
| ENST00000350721.8:c.738C>T | ENSP00000343741.4:p.Ser246= | |
| ENST00000507148.1:c.293-316C>T | ENSP00000426595.1:n.293-316C>T | |
| NM_001184.3:c.738C>T | NP_001175.2:p.Ser246= | |
| XM_011512924.1:c.738C>T | XP_011511226.1:p.Ser246= | |
| XM_011512925.1:c.738C>T | XP_011511227.1:p.Ser246= | |
| XM_011512926.1:c.738C>T | XP_011511228.1:p.Ser246= | |
| XM_011512927.1:c.738C>T | XP_011511229.1:p.Ser246= | |
| XR_924147.1:n.827C>T | ||
| XR_924148.1:n.827C>T | ||
| XR_924149.1:n.827C>T | ||
| NM_001354579.1:c.738C>T | NP_001341508.1:p.Ser246= | |
| XR_001740179.2:n.827C>T | ||
| XR_001740180.2:n.827C>T | ||
| XR_001740181.2:n.827C>T | ||
| XR_001740182.1:n.827C>T | ||
| XR_002959543.1:n.827C>T | ||
| XR_924148.2:n.827C>T | ||
| NM_001184.4:c.738C>T MANE Select | NP_001175.2:p.Ser246= | |
| NM_001354579.2:c.738C>T | NP_001341508.1:p.Ser246= |