Linked Data
ClinVar Variation Id:
2052028
ClinVar RCV Id:
RCV002932413
dbSNP Id:
rs758290972
ExAC:
19:36398632 C / A
gnomAD v2:
19-36398632-C-A
gnomAD v3:
19-35907730-C-A
gnomAD v4:
19-35907730-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35907730C>A , CM000681.2:g.35907730C>A | GRCh38 |
| NC_000019.9:g.36398632C>A , CM000681.1:g.36398632C>A | GRCh37 |
| NC_000019.8:g.41090472C>A | NCBI36 |
| NG_009304.1:g.5555G>T , LRG_607:g.5555G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262629.9:c.94G>T MANE Select | ENSP00000262629.3:p.Asp32Tyr | |
| ENST00000262629.8:c.94G>T | ENSP00000262629.3:p.Asp32Tyr | |
| ENST00000424586.7:c.62-150G>T | ENSP00000402371.3:n.62-150G>T | |
| ENST00000544690.6:c.62-150G>T | ENSP00000445332.1:n.62-150G>T | |
| ENST00000585626.1:n.161G>T | ||
| ENST00000585901.6:c.94G>T | ENSP00000468608.1:p.Asp32Tyr | |
| ENST00000586946.1:c.87G>T | ENSP00000465656.1:p.Ala29= | |
| ENST00000587837.5:c.87G>T | ENSP00000465081.1:p.Ala29= | |
| ENST00000588439.1:n.89G>T | ||
| ENST00000589517.1:c.94G>T | ENSP00000468447.1:p.Asp32Tyr | |
| NM_001173514.1:c.62-150G>T | NP_001166985.1:n.62-150G>T | |
| NM_001173515.1:c.62-150G>T | NP_001166986.1:n.62-150G>T | |
| NM_003332.3:c.94G>T , LRG_607t1:c.94G>T | NP_003323.1:p.Asp32Tyr | |
| NM_198125.2:c.94G>T | NP_937758.1:p.Asp32Tyr | |
| NR_033390.1:n.136-150G>T | ||
| NM_001173514.2:c.62-150G>T | NP_001166985.1:n.62-150G>T | |
| NM_001173515.2:c.62-150G>T | NP_001166986.1:n.62-150G>T | |
| NM_003332.4:c.94G>T MANE Select | NP_003323.1:p.Asp32Tyr | |
| NM_198125.3:c.94G>T | NP_937758.1:p.Asp32Tyr | |
| NR_033390.2:n.122-150G>T |