Linked Data
ClinVar Variation Id:
291162
dbSNP Id:
rs770522446
ExAC:
12:49431665 C / G
gnomAD v2:
12-49431665-C-G
gnomAD v4:
12-49037882-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49037882C>G , CM000674.2:g.49037882C>G | GRCh38 |
| NC_000012.11:g.49431665C>G , CM000674.1:g.49431665C>G | GRCh37 |
| NC_000012.10:g.47717932C>G | NCBI36 |
| NG_027827.1:g.22443G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683043.1:n.1173G>C | ||
| ENST00000683543.2:c.9474G>C | ENSP00000506726.1:p.Gln3158His | |
| ENST00000685166.1:c.9483G>C | ENSP00000509386.1:p.Gln3161His | |
| ENST00000687201.1:c.1038G>C | ENSP00000510037.1:p.Gln346His | |
| ENST00000689143.1:c.3077G>C | ENSP00000509839.1:n.3077G>C | |
| ENST00000692637.1:c.9471G>C | ENSP00000509666.1:p.Gln3157His | |
| ENST00000692841.1:c.1038G>C | ENSP00000508711.1:p.Gln346His | |
| ENST00000301067.12:c.9474G>C MANE Select | ENSP00000301067.7:p.Gln3158His | |
| ENST00000301067.11:c.9474G>C | ENSP00000301067.7:p.Gln3158His | |
| NM_003482.3:c.9474G>C | NP_003473.3:p.Gln3158His | |
| XM_005269162.3:c.9474G>C | XP_005269219.1:p.Gln3158His | |
| XM_006719614.2:c.9483G>C | XP_006719677.1:p.Gln3161His | |
| XM_006719616.2:c.9471G>C | XP_006719679.1:p.Gln3157His | |
| XM_011538770.1:c.9483G>C | XP_011537072.1:p.Gln3161His | |
| XM_011538771.1:c.9480G>C | XP_011537073.1:p.Gln3160His | |
| XM_011538772.1:c.9474G>C | XP_011537074.1:p.Gln3158His | |
| XM_011538773.1:c.9471G>C | XP_011537075.1:p.Gln3157His | |
| XM_011538774.1:c.9462G>C | XP_011537076.1:p.Gln3154His | |
| XM_011538775.1:c.9483G>C | XP_011537077.1:p.Gln3161His | |
| XM_011538776.1:c.9390G>C | XP_011537078.1:p.Gln3130His | |
| XR_944740.1:n.11803G>C | ||
| XM_005269162.4:c.9474G>C | XP_005269219.1:p.Gln3158His | |
| XM_006719614.4:c.9483G>C | XP_006719677.1:p.Gln3161His | |
| XM_006719616.3:c.9471G>C | XP_006719679.1:p.Gln3157His | |
| XM_011538770.2:c.9483G>C | XP_011537072.1:p.Gln3161His | |
| XM_011538771.2:c.9480G>C | XP_011537073.1:p.Gln3160His | |
| XM_011538772.2:c.9474G>C | XP_011537074.1:p.Gln3158His | |
| XM_011538773.2:c.9471G>C | XP_011537075.1:p.Gln3157His | |
| XM_011538774.2:c.9462G>C | XP_011537076.1:p.Gln3154His | |
| XM_011538776.2:c.9390G>C | XP_011537078.1:p.Gln3130His | |
| XR_001748874.1:n.10792G>C | ||
| NM_003482.4:c.9474G>C MANE Select | NP_003473.3:p.Gln3158His |