Linked Data
ClinVar Variation Id:
1431214
ClinVar RCV Id:
RCV001948555
dbSNP Id:
rs1253075699
gnomAD v2:
4-997402-C-G
gnomAD v3:
4-1003614-C-G
gnomAD v4:
4-1003614-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003614C>G , CM000666.2:g.1003614C>G | GRCh38 |
| NC_000004.11:g.997402C>G , CM000666.1:g.997402C>G | GRCh37 |
| NC_000004.10:g.987402C>G | NCBI36 |
| NG_008103.1:g.21618C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1716C>G | ENSP00000247933.4:p.His572Gln | |
| ENST00000514224.2:c.1716C>G MANE Select | ENSP00000425081.2:p.His572Gln | |
| ENST00000652070.1:n.1772C>G | ||
| ENST00000247933.8:c.1716C>G | ENSP00000247933.4:p.His572Gln | |
| ENST00000514224.1:c.1320C>G | ENSP00000425081.1:p.His440Gln | |
| ENST00000514417.1:n.108C>G | ||
| ENST00000514698.5:n.1823C>G | ||
| NM_000203.4:c.1716C>G | NP_000194.2:p.His572Gln | |
| NR_110313.1:n.1804C>G | ||
| XM_006713882.2:c.1320C>G | XP_006713945.1:p.His440Gln | |
| XM_011513459.1:c.1782C>G | XP_011511761.1:p.His594Gln | |
| XM_011513460.1:c.1575C>G | XP_011511762.1:p.His525Gln | |
| XM_011513461.1:c.1509C>G | XP_011511763.1:p.His503Gln | |
| XM_011513462.1:c.1428C>G | XP_011511764.1:p.His476Gln | |
| XM_011513463.1:c.1428C>G | XP_011511765.1:p.His476Gln | |
| XR_924947.1:n.1972C>G | ||
| NM_000203.5:c.1716C>G MANE Select | NP_000194.2:p.His572Gln | |
| NM_001363576.1:c.1320C>G | NP_001350505.1:p.His440Gln | |
| XM_011513461.2:c.1509C>G | XP_011511763.1:p.His503Gln | |
| XM_017008163.1:c.756C>G | XP_016863652.1:p.His252Gln |