Linked Data
ClinVar Variation Id:
1330357
ClinVar RCV Id:
RCV001803450
dbSNP Id:
rs748575133
ExAC:
19:38993348 T / A
gnomAD v2:
19-38993348-T-A
gnomAD v4:
19-38502708-T-A
ERepo:
CA070340/MONDO:0018493/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38502708T>A , CM000681.2:g.38502708T>A | GRCh38 |
| NC_000019.9:g.38993348T>A , CM000681.1:g.38993348T>A | GRCh37 |
| NC_000019.8:g.43685188T>A | NCBI36 |
| NG_008866.1:g.74009T>A , LRG_766:g.74009T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7816T>A | ENSP00000471601.2:p.Cys2606Ser | |
| ENST00000359596.8:c.7816T>A MANE Select | ENSP00000352608.2:p.Cys2606Ser | |
| ENST00000355481.8:c.7816T>A | ENSP00000347667.3:p.Cys2606Ser | |
| ENST00000359596.7:c.7816T>A | ENSP00000352608.2:p.Cys2606Ser | |
| ENST00000360985.7:c.7813T>A | ENSP00000354254.4:p.Cys2605Ser | |
| ENST00000594335.5:c.1268T>A | ||
| NM_000540.2:c.7816T>A , LRG_766t1:c.7816T>A | NP_000531.2:p.Cys2606Ser | |
| NM_001042723.1:c.7816T>A | NP_001036188.1:p.Cys2606Ser | |
| XM_006723317.1:c.7816T>A | XP_006723380.1:p.Cys2606Ser | |
| XM_006723319.1:c.7816T>A | XP_006723382.1:p.Cys2606Ser | |
| XM_011527204.1:c.7813T>A | XP_011525506.1:p.Cys2605Ser | |
| XM_011527205.1:c.7816T>A | XP_011525507.1:p.Cys2606Ser | |
| XM_006723317.2:c.7816T>A | XP_006723380.1:p.Cys2606Ser | |
| XM_006723319.2:c.7816T>A | XP_006723382.1:p.Cys2606Ser | |
| XM_011527205.2:c.7816T>A | XP_011525507.1:p.Cys2606Ser | |
| XR_001753735.1:n.7899T>A | ||
| NM_000540.3:c.7816T>A MANE Select | NP_000531.2:p.Cys2606Ser | |
| NM_001042723.2:c.7816T>A | NP_001036188.1:p.Cys2606Ser |