Linked Data
ClinVar Variation Id:
1061865
dbSNP Id:
rs1175705856
gnomAD v3:
4-88007903-A-G
gnomAD v4:
4-88007903-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007903A>G , CM000666.2:g.88007903A>G | GRCh38 |
| NC_000004.11:g.88929055A>G , CM000666.1:g.88929055A>G | GRCh37 |
| NC_000004.10:g.89148079A>G | NCBI36 |
| NG_008604.1:g.5236A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.170A>G MANE Select | ENSP00000237596.2:p.Gln57Arg | |
| ENST00000237596.6:c.170A>G | ENSP00000237596.2:p.Gln57Arg | |
| NM_000297.3:c.170A>G | NP_000288.1:p.Gln57Arg | |
| XM_011532028.1:c.170A>G | XP_011530330.1:p.Gln57Arg | |
| XR_244632.2:n.265A>G | ||
| NR_156488.1:n.257A>G | ||
| XM_011532028.2:c.170A>G | XP_011530330.1:p.Gln57Arg | |
| NM_000297.4:c.170A>G MANE Select | NP_000288.1:p.Gln57Arg | |
| NR_156488.2:n.269A>G |