Linked Data
ClinVar Variation Id:
347153
dbSNP Id:
rs754972981
ExAC:
4:110667378 C / G
gnomAD v2:
4-110667378-C-G
gnomAD v4:
4-109746222-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109746222C>G , CM000666.2:g.109746222C>G | GRCh38 |
| NC_000004.11:g.110667378C>G , CM000666.1:g.110667378C>G | GRCh37 |
| NC_000004.10:g.110886827C>G | NCBI36 |
| NG_007569.1:g.60764G>C , LRG_48:g.60764G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695844.1:n.1608G>C | ||
| ENST00000695845.1:n.1607G>C | ||
| ENST00000695846.1:n.1453G>C | ||
| ENST00000394634.7:c.1429G>C MANE Select | ENSP00000378130.2:p.Asp477His | |
| ENST00000394635.8:c.1453G>C | ENSP00000378131.3:p.Asp485His | |
| ENST00000645635.1:c.1429G>C | ENSP00000493607.1:p.Asp477His | |
| ENST00000394634.6:c.1429G>C | ENSP00000378130.2:p.Asp477His | |
| ENST00000394635.7:c.1453G>C | ENSP00000378131.3:p.Asp485His | |
| ENST00000504853.3:n.1846G>C | ||
| ENST00000512148.5:c.1408G>C | ENSP00000427438.1:p.Asp470His | |
| ENST00000515512.1:n.71G>C | ||
| ENST00000618244.4:c.1044+3277G>C | ENSP00000483416.1:n.1044+3277G>C | |
| NM_000204.3:c.1429G>C , LRG_48t1:c.1429G>C | NP_000195.2:p.Asp477His | |
| XM_005262975.1:c.1453G>C | XP_005263032.1:p.Asp485His | |
| XM_005262976.1:c.1408G>C | XP_005263033.1:p.Asp470His | |
| XM_006714209.1:c.1450G>C | XP_006714272.1:p.Asp484His | |
| XM_006714210.2:c.1453G>C | XP_006714273.1:p.Asp485His | |
| XM_011531920.1:c.1453G>C | XP_011530222.1:p.Asp485His | |
| NM_000204.4:c.1429G>C | NP_000195.2:p.Asp477His | |
| NM_001318057.1:c.1453G>C | NP_001304986.1:p.Asp485His | |
| NM_001331035.1:c.1408G>C | NP_001317964.1:p.Asp470His | |
| XM_006714210.4:c.1453G>C | XP_006714273.1:p.Asp485His | |
| XM_011531920.2:c.1453G>C | XP_011530222.1:p.Asp485His | |
| XM_017008164.2:c.1429G>C | XP_016863653.1:p.Asp477His | |
| XM_017008165.2:c.1408G>C | XP_016863654.1:p.Asp470His | |
| XM_017008166.2:c.1429G>C | XP_016863655.1:p.Asp477His | |
| NM_001318057.2:c.1453G>C | NP_001304986.2:p.Asp485His | |
| NM_001331035.2:c.1408G>C | NP_001317964.1:p.Asp470His | |
| NM_001375278.1:c.1453G>C | NP_001362207.1:p.Asp485His | |
| NM_001375279.1:c.1429G>C | NP_001362208.1:p.Asp477His | |
| NM_001375280.1:c.1408G>C | NP_001362209.1:p.Asp470His | |
| NM_001375281.1:c.1429G>C | NP_001362210.1:p.Asp477His | |
| NM_001375282.1:c.1408G>C | NP_001362211.1:p.Asp470His | |
| NM_001375283.1:c.1372G>C | NP_001362212.1:p.Asp458His | |
| NM_001375284.1:c.820G>C | NP_001362213.1:p.Asp274His | |
| NR_164671.1:n.1176+2996G>C | ||
| NR_164672.1:n.1479G>C | ||
| NR_164673.1:n.1453G>C | ||
| NM_000204.5:c.1429G>C MANE Select | NP_000195.3:p.Asp477His |