Linked Data
ClinVar Variation Id:
1650467
ClinVar RCV Id:
RCV002163452
dbSNP Id:
rs34149860
ExAC:
3:136062724 C / G
gnomAD v2:
3-136062724-C-G
gnomAD v3:
3-136343882-C-G
gnomAD v4:
3-136343882-C-G
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136343882C>G , CM000665.2:g.136343882C>G | GRCh38 |
| NC_000003.11:g.136062724C>G , CM000665.1:g.136062724C>G | GRCh37 |
| NC_000003.10:g.137545414C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383202.7:c.3396G>C MANE Select | ENSP00000372689.2:p.Gln1132His | |
| ENST00000236698.9:c.3396G>C | ENSP00000236698.5:p.Gln1132His | |
| ENST00000383202.6:c.3396G>C | ENSP00000372689.2:p.Gln1132His | |
| ENST00000434713.6:c.2616G>C | ENSP00000404396.2:p.Gln872His | |
| ENST00000483235.5:c.*3386G>C | ENSP00000419093.1:n.*3386G>C | |
| ENST00000629124.2:c.*3035G>C | ENSP00000486745.1:n.*3035G>C | |
| NM_005862.2:c.3396G>C | NP_005853.2:p.Gln1132His | |
| XM_011512329.1:c.2985G>C | XP_011510631.1:p.Gln995His | |
| XM_011512330.1:c.2985G>C | XP_011510632.1:p.Gln995His | |
| XM_011512331.1:c.2985G>C | XP_011510633.1:p.Gln995His | |
| XM_011512332.1:c.2718G>C | XP_011510634.1:p.Gln906His | |
| XM_011512333.1:c.2985G>C | XP_011510635.1:p.Gln995His | |
| XM_011512329.2:c.2985G>C | XP_011510631.1:p.Gln995His | |
| XM_011512331.2:c.2985G>C | XP_011510633.1:p.Gln995His | |
| XM_017005523.1:c.2985G>C | XP_016861012.1:p.Gln995His | |
| XM_017005524.2:c.2718G>C | XP_016861013.1:p.Gln906His | |
| XM_017005525.1:c.2085G>C | XP_016861014.1:p.Gln695His | |
| NM_005862.3:c.3396G>C MANE Select | NP_005853.2:p.Gln1132His |