Linked Data
ClinVar Variation Id:
2071037
ClinVar RCV Id:
RCV002971608
dbSNP Id:
rs563919263
ExAC:
19:3595702 C / T
gnomAD v2:
19-3595702-C-T
gnomAD v3:
19-3595704-C-T
gnomAD v4:
19-3595704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595704C>T , CM000681.2:g.3595704C>T | GRCh38 |
| NC_000019.9:g.3595702C>T , CM000681.1:g.3595702C>T | GRCh37 |
| NC_000019.8:g.3546702C>T | NCBI36 |
| NG_013363.1:g.16130G>A , LRG_578:g.16130G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.1016G>A MANE Select | ENSP00000364336.4:p.Arg339His | |
| ENST00000375190.8:c.1016G>A | ENSP00000364336.3:p.Arg339His | |
| ENST00000411851.3:c.983+33G>A | ENSP00000393333.2:n.983+33G>A | |
| ENST00000589966.1:c.627G>A | ENSP00000468145.1:p.Ala209= | |
| NM_001060.5:c.1016G>A , LRG_578t1:c.1016G>A | NP_001051.1:p.Arg339His | |
| NM_201636.2:c.983+33G>A | NP_963998.2:n.983+33G>A | |
| XM_011528214.1:c.1016G>A | XP_011526516.1:p.Arg339His | |
| XM_011528214.2:c.1016G>A | XP_011526516.1:p.Arg339His | |
| NM_001060.6:c.1016G>A MANE Select | NP_001051.1:p.Arg339His | |
| NM_201636.3:c.983+33G>A | NP_963998.2:n.983+33G>A |