Linked Data
ClinVar Variation Id:
42050
dbSNP Id:
rs200683433
ExAC:
3:148930403 C / G
gnomAD v2:
3-148930403-C-G
gnomAD v3:
3-149212616-C-G
gnomAD v4:
3-149212616-C-G
PubMed:
PMID:20301666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149212616C>G , CM000665.2:g.149212616C>G | GRCh38 |
| NC_000003.11:g.148930403C>G , CM000665.1:g.148930403C>G | GRCh37 |
| NC_000003.10:g.150413093C>G | NCBI36 |
| NG_011800.1:g.14430G>C | |
| NG_011800.2:g.14430G>C | |
| NG_011800.3:g.14430G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264613.11:c.229G>C MANE Select | ENSP00000264613.6:p.Asp77His | |
| ENST00000264613.10:c.229G>C | ENSP00000264613.6:p.Asp77His | |
| ENST00000455472.3:c.349G>C | ENSP00000426888.1:p.Asp117His | |
| ENST00000481169.5:c.229G>C | ENSP00000418773.1:p.Asp77His | |
| ENST00000490639.5:n.261G>C | ||
| NM_000096.3:c.229G>C | NP_000087.1:p.Asp77His | |
| NR_046371.1:n.482G>C | ||
| XM_006713499.2:c.229G>C | XP_006713562.1:p.Asp77His | |
| XM_006713500.2:c.229G>C | XP_006713563.1:p.Asp77His | |
| XM_006713501.2:c.229G>C | XP_006713564.1:p.Asp77His | |
| XM_006713502.2:c.229G>C | XP_006713565.1:p.Asp77His | |
| XM_011512435.1:c.229G>C | XP_011510737.1:p.Asp77His | |
| XR_427361.2:n.487G>C | ||
| XM_006713499.3:c.229G>C | XP_006713562.1:p.Asp77His | |
| XM_006713500.4:c.229G>C | XP_006713563.1:p.Asp77His | |
| XM_006713501.3:c.229G>C | XP_006713564.1:p.Asp77His | |
| XM_011512435.2:c.229G>C | XP_011510737.1:p.Asp77His | |
| XM_017005734.2:c.229G>C | XP_016861223.1:p.Asp77His | |
| XM_017005735.2:c.229G>C | XP_016861224.1:p.Asp77His | |
| XR_427361.3:n.445G>C | ||
| NM_000096.4:c.229G>C MANE Select | NP_000087.2:p.Asp77His | |
| NR_046371.2:n.266G>C |