Linked Data
ClinVar Variation Id:
1078065
ClinVar RCV Id:
RCV002242934
dbSNP Id:
rs547134376
gnomAD v3:
9-134750801-A-G
gnomAD v4:
9-134750801-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134750801A>G , CM000671.2:g.134750801A>G | GRCh38 |
| NC_000009.11:g.137642647A>G , CM000671.1:g.137642647A>G | GRCh37 |
| NC_000009.10:g.136782468A>G | NCBI36 |
| NG_008030.1:g.113996A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.1581A>G | ENSP00000360885.4:p.Gly527= | |
| ENST00000371817.8:c.1581A>G MANE Select | ENSP00000360882.3:p.Gly527= | |
| ENST00000371817.7:c.1581A>G | ENSP00000360882.3:p.Gly527= | |
| ENST00000618395.4:c.1581A>G | ENSP00000481360.1:p.Gly527= | |
| NM_000093.4:c.1581A>G | NP_000084.3:p.Gly527= | |
| NM_001278074.1:c.1581A>G | NP_001265003.1:p.Gly527= | |
| XR_929712.1:n.1983A>G | ||
| XR_929713.1:n.1983A>G | ||
| XM_017014266.2:c.1581A>G | XP_016869755.1:p.Gly527= | |
| XR_001746183.1:n.1979A>G | ||
| NM_000093.5:c.1581A>G MANE Select | NP_000084.3:p.Gly527= |