Linked Data
ClinVar Variation Id:
7007
dbSNP Id:
rs121909491
gnomAD v4:
9-126693250-G-A
PubMed:
PMID:9837817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126693250G>A , CM000671.2:g.126693250G>A | GRCh38 |
| NC_000009.11:g.129455529G>A , CM000671.1:g.129455529G>A | GRCh37 |
| NC_000009.10:g.128495350G>A | NCBI36 |
| NG_017039.1:g.83808G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355497.10:c.668G>A | ENSP00000347684.5:p.Arg223Gln | |
| ENST00000373474.9:c.668G>A MANE Select | ENSP00000362573.3:p.Arg223Gln | |
| ENST00000526117.6:c.668G>A | ENSP00000436930.1:p.Arg223Gln | |
| ENST00000355497.9:c.668G>A | ENSP00000347684.5:p.Arg223Gln | |
| ENST00000373474.8:c.668G>A | ENSP00000362573.3:p.Arg223Gln | |
| ENST00000526117.5:c.668G>A | ENSP00000436930.1:p.Arg223Gln | |
| ENST00000561065.1:c.599G>A | ENSP00000453580.1:p.Arg200Gln | |
| NM_001174146.1:c.668G>A | NP_001167617.1:p.Arg223Gln | |
| NM_001174147.1:c.668G>A | NP_001167618.1:p.Arg223Gln | |
| NM_002316.3:c.668G>A | NP_002307.2:p.Arg223Gln | |
| NM_001174146.2:c.668G>A | NP_001167617.1:p.Arg223Gln | |
| NM_001174147.2:c.668G>A MANE Select | NP_001167618.1:p.Arg223Gln | |
| NM_002316.4:c.668G>A | NP_002307.2:p.Arg223Gln |