Linked Data
ClinVar Variation Id:
425328
ClinVar RCV Id:
RCV000487937
dbSNP Id:
rs754802246
gnomAD v4:
4-6302375-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302375C>G , CM000666.2:g.6302375C>G | GRCh38 |
| NC_000004.11:g.6304102C>G , CM000666.1:g.6304102C>G | GRCh37 |
| NC_000004.10:g.6355003C>G | NCBI36 |
| NG_011700.1:g.37526C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2616C>G | ENSP00000507852.1:p.His872Gln | |
| ENST00000683395.1:c.2557C>G | ||
| ENST00000684087.1:c.2580C>G | ENSP00000506978.1:p.His860Gln | |
| ENST00000506362.2:c.2331C>G | ENSP00000424103.2:p.His777Gln | |
| ENST00000673991.1:c.2616C>G | ENSP00000501033.1:p.His872Gln | |
| ENST00000226760.5:c.2580C>G MANE Select | ENSP00000226760.1:p.His860Gln | |
| ENST00000503569.5:c.2580C>G | ENSP00000423337.1:p.His860Gln | |
| ENST00000507765.1:n.2765C>G | ||
| NM_001145853.1:c.2580C>G | NP_001139325.1:p.His860Gln | |
| NM_006005.3:c.2580C>G MANE Select | NP_005996.2:p.His860Gln | |
| XM_017008586.1:c.2589C>G | XP_016864075.1:p.His863Gln |