Linked Data
ClinVar Variation Id:
729586
ClinVar RCV Id:
RCV000904256
dbSNP Id:
rs752301632
gnomAD v2:
19-15636339-G-T
gnomAD v3:
19-15525528-G-T
gnomAD v4:
19-15525528-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15525528G>T , CM000681.2:g.15525528G>T | GRCh38 |
| NC_000019.9:g.15636339G>T , CM000681.1:g.15636339G>T | GRCh37 |
| NC_000019.8:g.15497339G>T | NCBI36 |
| NG_007987.1:g.22004G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269703.8:c.192G>T MANE Select | ENSP00000269703.1:p.Arg64= | |
| ENST00000269703.7:c.192G>T | ENSP00000269703.1:p.Arg64= | |
| ENST00000601005.2:c.192G>T | ENSP00000469866.1:p.Arg64= | |
| NM_173483.3:c.192G>T | NP_775754.2:p.Arg64= | |
| XM_011527692.1:c.192G>T | XP_011525994.1:p.Arg64= | |
| XM_011527693.1:c.192G>T | XP_011525995.1:p.Arg64= | |
| XM_011527692.2:c.192G>T | XP_011525994.1:p.Arg64= | |
| XM_011527693.2:c.192G>T | XP_011525995.1:p.Arg64= | |
| NM_173483.4:c.192G>T MANE Select | NP_775754.2:p.Arg64= |