Linked Data
ClinVar Variation Id:
129628
dbSNP Id:
rs2306985
ExAC:
4:100516022 C / G
gnomAD v2:
4-100516022-C-G
gnomAD v3:
4-99594865-C-G
gnomAD v4:
4-99594865-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99594865C>G , CM000666.2:g.99594865C>G | GRCh38 |
| NC_000004.11:g.100516022C>G , CM000666.1:g.100516022C>G | GRCh37 |
| NC_000004.10:g.100735045C>G | NCBI36 |
| NG_011469.1:g.35783C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265517.10:c.891C>G MANE Select | ENSP00000265517.5:p.His297Gln | |
| ENST00000457717.6:c.891C>G | ENSP00000400821.1:p.His297Gln | |
| ENST00000511045.6:c.642C>G | ENSP00000427679.2:p.His214Gln | |
| ENST00000265517.9:c.891C>G | ENSP00000265517.5:p.His297Gln | |
| ENST00000457717.5:c.891C>G | ENSP00000400821.1:p.His297Gln | |
| ENST00000511045.5:c.972C>G | ENSP00000427679.1:p.His324Gln | |
| ENST00000619629.1:c.891C>G | ENSP00000482850.1:p.His297Gln | |
| NM_000253.3:c.891C>G | NP_000244.2:p.His297Gln | |
| NM_001300785.1:c.972C>G | NP_001287714.1:p.His324Gln | |
| NM_000253.4:c.891C>G | NP_000244.2:p.His297Gln | |
| NM_001300785.2:c.642C>G | NP_001287714.2:p.His214Gln | |
| NM_001386140.1:c.891C>G MANE Select | NP_001373069.1:p.His297Gln |