Linked Data
ClinVar Variation Id:
2417709
ClinVar RCV Id:
RCV003115178
dbSNP Id:
rs201820661
gnomAD v2:
1-40557071-C-T
gnomAD v3:
1-40091399-C-T
gnomAD v4:
1-40091399-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40091399C>T , CM000663.2:g.40091399C>T | GRCh38 |
| NC_000001.10:g.40557071C>T , CM000663.1:g.40557071C>T | GRCh37 |
| NC_000001.9:g.40329658C>T | NCBI36 |
| NG_009192.1:g.11072G>A , LRG_690:g.11072G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*199G>A | ENSP00000361865.5:n.*199G>A | |
| ENST00000433473.8:c.360G>A | ENSP00000394863.4:p.Leu120= | |
| ENST00000439754.6:c.363G>A | ENSP00000403207.2:p.Leu121= | |
| ENST00000449045.7:c.125-1887G>A | ENSP00000392293.2:n.125-1887G>A | |
| ENST00000526547.2:c.643G>A | ||
| ENST00000527311.7:c.235G>A | ENSP00000436695.3:p.Glu79Lys | |
| ENST00000530704.6:c.363G>A | ENSP00000431655.1:p.Leu121= | |
| ENST00000641083.1:c.341G>A | ||
| ENST00000641236.1:n.600G>A | ||
| ENST00000641319.1:c.363G>A | ENSP00000493128.1:p.Leu121= | |
| ENST00000641471.1:c.450G>A | ENSP00000493146.1:p.Leu150= | |
| ENST00000641548.1:c.*215G>A | ENSP00000492984.1:n.*215G>A | |
| ENST00000641691.1:c.*215G>A | ENSP00000492910.1:n.*215G>A | |
| ENST00000641924.1:c.124+5716G>A | ENSP00000493063.1:n.124+5716G>A | |
| ENST00000642050.2:c.363G>A MANE Select | ENSP00000493153.1:p.Leu121= | |
| ENST00000372779.8:c.450G>A | ENSP00000361865.4:p.Leu150= | |
| ENST00000433473.7:c.363G>A | ENSP00000394863.3:p.Leu121= | |
| ENST00000439754.5:c.48G>A | ENSP00000403207.1:p.Leu16= | |
| ENST00000449045.6:c.125-1887G>A | ENSP00000392293.2:n.125-1887G>A | |
| ENST00000526547.1:c.213G>A | ENSP00000436481.1:p.Leu71= | |
| ENST00000527311.6:c.138G>A | ENSP00000436695.2:p.Leu46= | |
| ENST00000529905.5:c.363G>A | ENSP00000432053.1:p.Leu121= | |
| ENST00000530704.5:c.363G>A | ENSP00000431655.1:p.Leu121= | |
| NM_000310.3:c.363G>A , LRG_690t1:c.363G>A | NP_000301.1:p.Leu121= | |
| NM_001142604.1:c.125-1887G>A | NP_001136076.1:n.125-1887G>A | |
| XM_005271008.1:c.363G>A | XP_005271065.1:p.Leu121= | |
| NM_001363695.1:c.363G>A | NP_001350624.1:p.Leu121= | |
| NM_000310.4:c.363G>A MANE Select | NP_000301.1:p.Leu121= | |
| NM_001142604.2:c.125-1887G>A | NP_001136076.1:n.125-1887G>A | |
| NM_001363695.2:c.363G>A | NP_001350624.1:p.Leu121= |