Linked Data
ClinVar Variation Id:
42123
dbSNP Id:
rs145784949
ExAC:
3:148903153 G / A
gnomAD v2:
3-148903153-G-A
gnomAD v3:
3-149185366-G-A
gnomAD v4:
3-149185366-G-A
PubMed:
PMID:20301666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149185366G>A , CM000665.2:g.149185366G>A | GRCh38 |
| NC_000003.11:g.148903153G>A , CM000665.1:g.148903153G>A | GRCh37 |
| NC_000003.10:g.150385843G>A | NCBI36 |
| NG_011800.1:g.41680C>T | |
| NG_011800.2:g.41680C>T | |
| NG_011800.3:g.41680C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264613.11:c.2158C>T MANE Select | ENSP00000264613.6:p.Arg720Trp | |
| ENST00000264613.10:c.2158C>T | ENSP00000264613.6:p.Arg720Trp | |
| ENST00000462336.5:n.490C>T | ||
| ENST00000481169.5:c.1945C>T | ENSP00000418773.1:p.Arg649Trp | |
| ENST00000490639.5:n.2190C>T | ||
| ENST00000494544.1:c.1507C>T | ENSP00000420545.1:p.Arg503Trp | |
| ENST00000497902.5:n.339C>T | ||
| NM_000096.3:c.2158C>T | NP_000087.1:p.Arg720Trp | |
| NR_046371.1:n.2198C>T | ||
| XM_006713499.2:c.2158C>T | XP_006713562.1:p.Arg720Trp | |
| XM_006713500.2:c.2158C>T | XP_006713563.1:p.Arg720Trp | |
| XM_006713501.2:c.2158C>T | XP_006713564.1:p.Arg720Trp | |
| XM_006713502.2:c.2158C>T | XP_006713565.1:p.Arg720Trp | |
| XM_011512435.1:c.2158C>T | XP_011510737.1:p.Arg720Trp | |
| XR_427361.2:n.2416C>T | ||
| XM_006713499.3:c.2158C>T | XP_006713562.1:p.Arg720Trp | |
| XM_006713500.4:c.2158C>T | XP_006713563.1:p.Arg720Trp | |
| XM_006713501.3:c.2158C>T | XP_006713564.1:p.Arg720Trp | |
| XM_011512435.2:c.2158C>T | XP_011510737.1:p.Arg720Trp | |
| XM_017005734.2:c.2158C>T | XP_016861223.1:p.Arg720Trp | |
| XM_017005735.2:c.2158C>T | XP_016861224.1:p.Arg720Trp | |
| XR_427361.3:n.2374C>T | ||
| NM_000096.4:c.2158C>T MANE Select | NP_000087.2:p.Arg720Trp | |
| NR_046371.2:n.1982C>T |