Linked Data
ClinVar Variation Id:
488147
ClinVar RCV Id:
RCV000584748
dbSNP Id:
rs769313989
ExAC:
3:148925174 A / T
gnomAD v2:
3-148925174-A-T
gnomAD v4:
3-149207387-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149207387A>T , CM000665.2:g.149207387A>T | GRCh38 |
| NC_000003.11:g.148925174A>T , CM000665.1:g.148925174A>T | GRCh37 |
| NC_000003.10:g.150407864A>T | NCBI36 |
| NG_011800.1:g.19659T>A | |
| NG_011800.2:g.19659T>A | |
| NG_011800.3:g.19659T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.1012T>A MANE Select | ENSP00000264613.6:p.Cys338Ser | |
| ENST00000264613.10:c.1012T>A | ENSP00000264613.6:p.Cys338Ser | |
| ENST00000481169.5:c.1012T>A | ENSP00000418773.1:p.Cys338Ser | |
| ENST00000489736.5:n.237T>A | ||
| ENST00000490639.5:n.1044T>A | ||
| ENST00000494544.1:c.361T>A | ENSP00000420545.1:p.Cys121Ser | |
| NM_000096.3:c.1012T>A | NP_000087.1:p.Cys338Ser | |
| NR_046371.1:n.1265T>A | ||
| XM_006713499.2:c.1012T>A | XP_006713562.1:p.Cys338Ser | |
| XM_006713500.2:c.1012T>A | XP_006713563.1:p.Cys338Ser | |
| XM_006713501.2:c.1012T>A | XP_006713564.1:p.Cys338Ser | |
| XM_006713502.2:c.1012T>A | XP_006713565.1:p.Cys338Ser | |
| XM_011512435.1:c.1012T>A | XP_011510737.1:p.Cys338Ser | |
| XR_427361.2:n.1270T>A | ||
| XM_006713499.3:c.1012T>A | XP_006713562.1:p.Cys338Ser | |
| XM_006713500.4:c.1012T>A | XP_006713563.1:p.Cys338Ser | |
| XM_006713501.3:c.1012T>A | XP_006713564.1:p.Cys338Ser | |
| XM_011512435.2:c.1012T>A | XP_011510737.1:p.Cys338Ser | |
| XM_017005734.2:c.1012T>A | XP_016861223.1:p.Cys338Ser | |
| XM_017005735.2:c.1012T>A | XP_016861224.1:p.Cys338Ser | |
| XR_427361.3:n.1228T>A | ||
| NM_000096.4:c.1012T>A MANE Select | NP_000087.2:p.Cys338Ser | |
| NR_046371.2:n.1049T>A |