Linked Data
ClinVar Variation Id:
98329
dbSNP Id:
rs121912248
ExAC:
20:61982178 G / C
gnomAD v2:
20-61982178-G-C
gnomAD v3:
20-63350826-G-C
gnomAD v4:
20-63350826-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350826G>C , CM000682.2:g.63350826G>C | GRCh38 |
| NC_000020.10:g.61982178G>C , CM000682.1:g.61982178G>C | GRCh37 |
| NC_000020.9:g.61452622G>C | NCBI36 |
| NG_011931.1:g.15518C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.585C>G MANE Select | ENSP00000359285.4:p.His195Gln | |
| ENST00000370263.8:c.585C>G | ENSP00000359285.4:p.His195Gln | |
| ENST00000463705.5:n.1233C>G | ||
| ENST00000467563.3:n.655C>G | ||
| ENST00000498043.6:c.609C>G | ||
| ENST00000615287.4:c.372C>G | ENSP00000483388.1:p.His124Gln | |
| ENST00000627000.1:c.*274C>G | ENSP00000486914.1:n.*274C>G | |
| ENST00000630240.1:n.306C>G | ||
| NM_000744.6:c.585C>G | NP_000735.1:p.His195Gln | |
| NM_001256573.1:c.57C>G | NP_001243502.1:p.His19Gln | |
| NR_046317.1:n.841C>G | ||
| XM_011528524.1:c.372C>G | XP_011526826.1:p.His124Gln | |
| XM_017027625.2:c.57C>G | XP_016883114.1:p.His19Gln | |
| XM_024451822.1:c.57C>G | XP_024307590.1:p.His19Gln | |
| NM_001256573.2:c.57C>G | NP_001243502.1:p.His19Gln | |
| NR_046317.2:n.794C>G | ||
| NM_000744.7:c.585C>G MANE Select | NP_000735.1:p.His195Gln |