Linked Data
ClinVar Variation Id:
236407
ClinVar RCV Id:
RCV000225555
dbSNP Id:
rs878853322
gnomAD v4:
1-40078573-G-A
COSMIC:
COSM3489515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40078573G>A , CM000663.2:g.40078573G>A | GRCh38 |
| NC_000001.10:g.40544245G>A , CM000663.1:g.40544245G>A | GRCh37 |
| NC_000001.9:g.40316832G>A | NCBI36 |
| NG_009192.1:g.23898C>T , LRG_690:g.23898C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.710C>T | ENSP00000394863.4:p.Pro237Leu | |
| ENST00000439754.6:c.713C>T | ENSP00000403207.2:p.Pro238Leu | |
| ENST00000449045.7:c.404C>T | ENSP00000392293.2:p.Pro135Leu | |
| ENST00000527311.7:c.482C>T | ENSP00000436695.3:p.Pro161Leu | |
| ENST00000530076.6:c.56C>T | ENSP00000434007.1:p.Pro19Leu | |
| ENST00000530704.6:c.*336C>T | ENSP00000431655.1:n.*336C>T | |
| ENST00000641083.1:c.691C>T | ||
| ENST00000641236.1:n.950C>T | ||
| ENST00000641319.1:c.713C>T | ENSP00000493128.1:p.Pro238Leu | |
| ENST00000641381.1:c.149-1660C>T | ||
| ENST00000641471.1:c.800C>T | ENSP00000493146.1:p.Pro267Leu | |
| ENST00000641691.1:c.*565C>T | ENSP00000492910.1:n.*565C>T | |
| ENST00000641924.1:c.*142C>T | ENSP00000493063.1:n.*142C>T | |
| ENST00000642050.2:c.713C>T MANE Select | ENSP00000493153.1:p.Pro238Leu | |
| ENST00000372775.2:n.110C>T | ||
| ENST00000372779.8:c.800C>T | ENSP00000361865.4:p.Pro267Leu | |
| ENST00000433473.7:c.713C>T | ENSP00000394863.3:p.Pro238Leu | |
| ENST00000439754.5:c.398C>T | ENSP00000403207.1:p.Pro133Leu | |
| ENST00000449045.6:c.404C>T | ENSP00000392293.2:p.Pro135Leu | |
| ENST00000527311.6:c.488C>T | ENSP00000436695.2:p.Pro163Leu | |
| ENST00000529905.5:c.713C>T | ENSP00000432053.1:p.Pro238Leu | |
| ENST00000530076.5:c.56C>T | ENSP00000434007.1:p.Pro19Leu | |
| ENST00000530704.5:c.*336C>T | ENSP00000431655.1:n.*336C>T | |
| NM_000310.3:c.713C>T , LRG_690t1:c.713C>T | NP_000301.1:p.Pro238Leu | |
| NM_001142604.1:c.404C>T | NP_001136076.1:p.Pro135Leu | |
| XM_005271008.1:c.713C>T | XP_005271065.1:p.Pro238Leu | |
| NM_001363695.1:c.713C>T | NP_001350624.1:p.Pro238Leu | |
| NM_000310.4:c.713C>T MANE Select | NP_000301.1:p.Pro238Leu | |
| NM_001142604.2:c.404C>T | NP_001136076.1:p.Pro135Leu | |
| NM_001363695.2:c.713C>T | NP_001350624.1:p.Pro238Leu |