Linked Data
ClinVar Variation Id:
5746
dbSNP Id:
rs137853134
ExAC:
9:131114938 A / G
gnomAD v2:
9-131114938-A-G
gnomAD v3:
9-128352659-A-G
gnomAD v4:
9-128352659-A-G
PubMed:
PMID:19631310
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128352659A>G , CM000671.2:g.128352659A>G | GRCh38 |
| NC_000009.11:g.131114938A>G , CM000671.1:g.131114938A>G | GRCh37 |
| NC_000009.10:g.130154759A>G | NCBI36 |
| NG_017057.1:g.17100A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300456.5:c.899A>G MANE Select | ENSP00000300456.3:p.Gln300Arg | |
| ENST00000300456.4:c.899A>G | ENSP00000300456.3:p.Gln300Arg | |
| ENST00000372870.5:c.232-2519A>G | ENSP00000361961.1:n.232-2519A>G | |
| NM_005094.3:c.899A>G | NP_005085.2:p.Gln300Arg | |
| XM_017014222.1:c.899A>G | XP_016869711.1:p.Gln300Arg | |
| XM_024447391.1:c.899A>G | XP_024303159.1:p.Gln300Arg | |
| NM_005094.4:c.899A>G MANE Select | NP_005085.2:p.Gln300Arg |