Linked Data
ClinVar Variation Id:
372746
ClinVar RCV Id:
RCV000414625
dbSNP Id:
rs1057141162
gnomAD v4:
7-66086758-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66086758T>G , CM000669.2:g.66086758T>G | GRCh38 |
| NC_000007.13:g.65551745T>G , CM000669.1:g.65551745T>G | GRCh37 |
| NC_000007.12:g.65189180T>G | NCBI36 |
| NG_009288.1:g.15970T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.539T>G MANE Select | ENSP00000307188.9:p.Leu180Arg | |
| ENST00000362000.10:c.344T>G | ENSP00000354710.6:p.Leu115Arg | |
| ENST00000380839.9:c.524+96T>G | ENSP00000370219.4:n.524+96T>G | |
| ENST00000395331.4:c.539T>G | ENSP00000378740.3:p.Leu180Arg | |
| ENST00000395332.8:c.539T>G | ENSP00000378741.3:p.Leu180Arg | |
| ENST00000671817.1:c.524+96T>G | ENSP00000500462.1:n.524+96T>G | |
| ENST00000672498.1:c.447-971T>G | ENSP00000500227.1:n.447-971T>G | |
| ENST00000672586.1:n.444T>G | ||
| ENST00000672676.1:n.709T>G | ||
| ENST00000673149.1:n.351T>G | ||
| ENST00000673350.1:n.787T>G | ||
| ENST00000673518.1:c.524+96T>G | ENSP00000499889.1:n.524+96T>G | |
| ENST00000673594.1:n.388T>G | ||
| ENST00000304874.13:c.539T>G | ENSP00000307188.9:p.Leu180Arg | |
| ENST00000362000.9:c.344T>G | ENSP00000354710.5:p.Leu115Arg | |
| ENST00000380839.8:c.524+96T>G | ENSP00000370219.4:n.524+96T>G | |
| ENST00000395331.3:c.539T>G | ENSP00000378740.3:p.Leu180Arg | |
| ENST00000395332.7:c.539T>G | ENSP00000378741.3:p.Leu180Arg | |
| ENST00000487982.5:n.605T>G | ||
| NM_000048.3:c.539T>G | NP_000039.2:p.Leu180Arg | |
| NM_001024943.1:c.539T>G | NP_001020114.1:p.Leu180Arg | |
| NM_001024944.1:c.539T>G | NP_001020115.1:p.Leu180Arg | |
| NM_001024946.1:c.524+96T>G | NP_001020117.1:n.524+96T>G | |
| NM_000048.4:c.539T>G MANE Select | NP_000039.2:p.Leu180Arg | |
| NM_001024943.2:c.539T>G | NP_001020114.1:p.Leu180Arg | |
| NM_001024944.2:c.539T>G | NP_001020115.1:p.Leu180Arg | |
| NM_001024946.2:c.524+96T>G | NP_001020117.1:n.524+96T>G |