Linked Data
ClinVar Variation Id:
1541566
ClinVar RCV Id:
RCV002179524
dbSNP Id:
rs58142709
gnomAD v2:
19-15651456-G-A
gnomAD v4:
19-15540645-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15540645G>A , CM000681.2:g.15540645G>A | GRCh38 |
| NC_000019.9:g.15651456G>A , CM000681.1:g.15651456G>A | GRCh37 |
| NC_000019.8:g.15512456G>A | NCBI36 |
| NG_007987.1:g.37121G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269703.8:c.867G>A MANE Select | ENSP00000269703.1:p.Gln289= | |
| ENST00000269703.7:c.867G>A | ENSP00000269703.1:p.Gln289= | |
| ENST00000601005.2:c.867G>A | ENSP00000469866.1:p.Gln289= | |
| NM_173483.3:c.867G>A | NP_775754.2:p.Gln289= | |
| XM_011527692.1:c.867G>A | XP_011525994.1:p.Gln289= | |
| XM_011527693.1:c.867G>A | XP_011525995.1:p.Gln289= | |
| XM_011527692.2:c.867G>A | XP_011525994.1:p.Gln289= | |
| XM_011527693.2:c.867G>A | XP_011525995.1:p.Gln289= | |
| NM_173483.4:c.867G>A MANE Select | NP_775754.2:p.Gln289= |