Linked Data
ClinVar Variation Id:
426324
dbSNP Id:
rs764356037
ExAC:
7:65554322 G / C
gnomAD v2:
7-65554322-G-C
gnomAD v4:
7-66089335-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66089335G>C , CM000669.2:g.66089335G>C | GRCh38 |
| NC_000007.13:g.65554322G>C , CM000669.1:g.65554322G>C | GRCh37 |
| NC_000007.12:g.65191757G>C | NCBI36 |
| NG_009288.1:g.18547G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.978G>C MANE Select | ENSP00000307188.9:p.Gln326His | |
| ENST00000362000.10:c.783G>C | ENSP00000354710.6:p.Gln261His | |
| ENST00000380839.9:c.900G>C | ENSP00000370219.4:p.Gln300His | |
| ENST00000395331.4:c.918+160G>C | ENSP00000378740.3:n.918+160G>C | |
| ENST00000395332.8:c.978G>C | ENSP00000378741.3:p.Gln326His | |
| ENST00000488343.2:c.147G>C | ENSP00000500864.1:p.Gln49His | |
| ENST00000671817.1:c.900G>C | ENSP00000500462.1:p.Gln300His | |
| ENST00000672498.1:c.*277G>C | ENSP00000500227.1:n.*277G>C | |
| ENST00000672586.1:n.1737G>C | ||
| ENST00000672676.1:n.2002G>C | ||
| ENST00000673149.1:n.790G>C | ||
| ENST00000673350.1:n.3095G>C | ||
| ENST00000673518.1:c.900G>C | ENSP00000499889.1:p.Gln300His | |
| ENST00000304874.13:c.978G>C | ENSP00000307188.9:p.Gln326His | |
| ENST00000380839.8:c.900G>C | ENSP00000370219.4:p.Gln300His | |
| ENST00000395331.3:c.918+160G>C | ENSP00000378740.3:n.918+160G>C | |
| ENST00000395332.7:c.978G>C | ENSP00000378741.3:p.Gln326His | |
| ENST00000450043.2:c.291G>C | ENSP00000396527.2:p.Gln97His | |
| ENST00000464970.1:n.97G>C | ||
| ENST00000488343.1:n.147G>C | ||
| ENST00000493708.5:n.459G>C | ||
| NM_000048.3:c.978G>C | NP_000039.2:p.Gln326His | |
| NM_001024943.1:c.978G>C | NP_001020114.1:p.Gln326His | |
| NM_001024944.1:c.918+160G>C | NP_001020115.1:n.918+160G>C | |
| NM_001024946.1:c.900G>C | NP_001020117.1:p.Gln300His | |
| NM_000048.4:c.978G>C MANE Select | NP_000039.2:p.Gln326His | |
| NM_001024943.2:c.978G>C | NP_001020114.1:p.Gln326His | |
| NM_001024944.2:c.918+160G>C | NP_001020115.1:n.918+160G>C | |
| NM_001024946.2:c.900G>C | NP_001020117.1:p.Gln300His |