Linked Data
ClinVar Variation Id:
521972
dbSNP Id:
rs753121118
ExAC:
12:49435043 T / G
gnomAD v2:
12-49435043-T-G
gnomAD v4:
12-49041260-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49041260T>G , CM000674.2:g.49041260T>G | GRCh38 |
| NC_000012.11:g.49435043T>G , CM000674.1:g.49435043T>G | GRCh37 |
| NC_000012.10:g.47721310T>G | NCBI36 |
| NG_027827.1:g.19065A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.6510A>C | ENSP00000506726.1:p.Gln2170His | |
| ENST00000685166.1:c.6519A>C | ENSP00000509386.1:p.Gln2173His | |
| ENST00000689060.1:c.529A>C | ||
| ENST00000689143.1:c.183A>C | ENSP00000509839.1:p.Gln61His | |
| ENST00000689944.1:c.619A>C | ||
| ENST00000692637.1:c.6507A>C | ENSP00000509666.1:p.Gln2169His | |
| ENST00000301067.12:c.6510A>C MANE Select | ENSP00000301067.7:p.Gln2170His | |
| ENST00000301067.11:c.6510A>C | ENSP00000301067.7:p.Gln2170His | |
| NM_003482.3:c.6510A>C | NP_003473.3:p.Gln2170His | |
| XM_005269162.3:c.6510A>C | XP_005269219.1:p.Gln2170His | |
| XM_006719614.2:c.6519A>C | XP_006719677.1:p.Gln2173His | |
| XM_006719616.2:c.6507A>C | XP_006719679.1:p.Gln2169His | |
| XM_011538770.1:c.6519A>C | XP_011537072.1:p.Gln2173His | |
| XM_011538771.1:c.6516A>C | XP_011537073.1:p.Gln2172His | |
| XM_011538772.1:c.6510A>C | XP_011537074.1:p.Gln2170His | |
| XM_011538773.1:c.6507A>C | XP_011537075.1:p.Gln2169His | |
| XM_011538774.1:c.6498A>C | XP_011537076.1:p.Gln2166His | |
| XM_011538775.1:c.6519A>C | XP_011537077.1:p.Gln2173His | |
| XM_011538776.1:c.6426A>C | XP_011537078.1:p.Gln2142His | |
| XR_944740.1:n.8839A>C | ||
| XM_005269162.4:c.6510A>C | XP_005269219.1:p.Gln2170His | |
| XM_006719614.4:c.6519A>C | XP_006719677.1:p.Gln2173His | |
| XM_006719616.3:c.6507A>C | XP_006719679.1:p.Gln2169His | |
| XM_011538770.2:c.6519A>C | XP_011537072.1:p.Gln2173His | |
| XM_011538771.2:c.6516A>C | XP_011537073.1:p.Gln2172His | |
| XM_011538772.2:c.6510A>C | XP_011537074.1:p.Gln2170His | |
| XM_011538773.2:c.6507A>C | XP_011537075.1:p.Gln2169His | |
| XM_011538774.2:c.6498A>C | XP_011537076.1:p.Gln2166His | |
| XM_011538776.2:c.6426A>C | XP_011537078.1:p.Gln2142His | |
| XR_001748874.1:n.7828A>C | ||
| NM_003482.4:c.6510A>C MANE Select | NP_003473.3:p.Gln2170His |