Linked Data
ClinVar Variation Id:
56197
ClinVar RCV Id:
RCV000049608
dbSNP Id:
rs386833649
ExAC:
1:40555128 G / A
gnomAD v2:
1-40555128-G-A
gnomAD v4:
1-40089456-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40089456G>A , CM000663.2:g.40089456G>A | GRCh38 |
| NC_000001.10:g.40555128G>A , CM000663.1:g.40555128G>A | GRCh37 |
| NC_000001.9:g.40327715G>A | NCBI36 |
| NG_009192.1:g.13015C>T , LRG_690:g.13015C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*326C>T | ENSP00000361865.5:n.*326C>T | |
| ENST00000433473.8:c.487C>T | ENSP00000394863.4:p.Arg163Ter | |
| ENST00000439754.6:c.490C>T | ENSP00000403207.2:p.Arg164Ter | |
| ENST00000449045.7:c.181C>T | ENSP00000392293.2:p.Arg61Ter | |
| ENST00000527311.7:c.305+1873C>T | ENSP00000436695.3:n.305+1873C>T | |
| ENST00000530704.6:c.*113C>T | ENSP00000431655.1:n.*113C>T | |
| ENST00000641083.1:c.468C>T | ||
| ENST00000641236.1:n.727C>T | ||
| ENST00000641319.1:c.490C>T | ENSP00000493128.1:p.Arg164Ter | |
| ENST00000641381.1:c.102C>T | ||
| ENST00000641471.1:c.577C>T | ENSP00000493146.1:p.Arg193Ter | |
| ENST00000641691.1:c.*342C>T | ENSP00000492910.1:n.*342C>T | |
| ENST00000641924.1:c.124+7659C>T | ENSP00000493063.1:n.124+7659C>T | |
| ENST00000642050.2:c.490C>T MANE Select | ENSP00000493153.1:p.Arg164Ter | |
| ENST00000372779.8:c.577C>T | ENSP00000361865.4:p.Arg193Ter | |
| ENST00000433473.7:c.490C>T | ENSP00000394863.3:p.Arg164Ter | |
| ENST00000439754.5:c.175C>T | ENSP00000403207.1:p.Arg59Ter | |
| ENST00000449045.6:c.181C>T | ENSP00000392293.2:p.Arg61Ter | |
| ENST00000527311.6:c.265C>T | ENSP00000436695.2:p.Arg89Ter | |
| ENST00000529905.5:c.490C>T | ENSP00000432053.1:p.Arg164Ter | |
| ENST00000530704.5:c.*113C>T | ENSP00000431655.1:n.*113C>T | |
| NM_000310.3:c.490C>T , LRG_690t1:c.490C>T | NP_000301.1:p.Arg164Ter | |
| NM_001142604.1:c.181C>T | NP_001136076.1:p.Arg61Ter | |
| XM_005271008.1:c.490C>T | XP_005271065.1:p.Arg164Ter | |
| NM_001363695.1:c.490C>T | NP_001350624.1:p.Arg164Ter | |
| NM_000310.4:c.490C>T MANE Select | NP_000301.1:p.Arg164Ter | |
| NM_001142604.2:c.181C>T | NP_001136076.1:p.Arg61Ter | |
| NM_001363695.2:c.490C>T | NP_001350624.1:p.Arg164Ter |