Linked Data
ClinVar Variation Id:
2646905
ClinVar RCV Id:
RCV003426859
dbSNP Id:
rs750021897
ExAC:
16:84065528 G / A
gnomAD v2:
16-84065528-G-A
gnomAD v4:
16-84031923-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84031923G>A , CM000678.2:g.84031923G>A | GRCh38 |
| NC_000016.9:g.84065528G>A , CM000678.1:g.84065528G>A | GRCh37 |
| NC_000016.8:g.82623029G>A | NCBI36 |
| NG_034136.1:g.15235C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299709.8:c.576C>T MANE Select | ENSP00000299709.3:p.Thr192= | |
| ENST00000299709.7:c.576C>T | ENSP00000299709.3:p.Thr192= | |
| ENST00000568178.1:c.576C>T | ENSP00000457737.1:p.Thr192= | |
| NM_001080442.2:c.576C>T | NP_001073911.1:p.Thr192= | |
| XM_011522872.1:c.576C>T | XP_011521174.1:p.Thr192= | |
| XM_017022946.1:c.576C>T | XP_016878435.1:p.Thr192= | |
| NM_001080442.3:c.576C>T MANE Select | NP_001073911.1:p.Thr192= |