Linked Data
ClinVar Variation Id:
306797
dbSNP Id:
rs886048850
gnomAD v3:
12-101757601-G-C
gnomAD v4:
12-101757601-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101757601G>C , CM000674.2:g.101757601G>C | GRCh38 |
| NC_000012.11:g.102151379G>C , CM000674.1:g.102151379G>C | GRCh37 |
| NC_000012.10:g.100675510G>C | NCBI36 |
| NG_021243.1:g.78267C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3306C>G MANE Select | ENSP00000299314.7:p.His1102Gln | |
| ENST00000299314.11:c.3306C>G | ENSP00000299314.7:p.His1102Gln | |
| ENST00000549194.1:n.172C>G | ||
| ENST00000549738.5:c.57C>G | ENSP00000450161.1:p.His19Gln | |
| ENST00000550718.1:c.118C>G | ||
| NM_024312.4:c.3306C>G | NP_077288.2:p.His1102Gln | |
| XM_006719593.2:c.3306C>G | XP_006719656.1:p.His1102Gln | |
| XM_011538731.1:c.3225C>G | XP_011537033.1:p.His1075Gln | |
| XM_006719593.3:c.3306C>G | XP_006719656.1:p.His1102Gln | |
| XM_011538731.2:c.3225C>G | XP_011537033.1:p.His1075Gln | |
| XM_017019961.1:c.3090C>G | XP_016875450.1:p.His1030Gln | |
| XM_017019962.2:c.2079C>G | XP_016875451.1:p.His693Gln | |
| NM_024312.5:c.3306C>G MANE Select | NP_077288.2:p.His1102Gln |