Linked Data
ClinVar Variation Id:
230274
dbSNP Id:
rs876658477
gnomAD v2:
11-111965534-T-G
gnomAD v4:
11-112094810-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094810T>G , CM000673.2:g.112094810T>G | GRCh38 |
| NC_000011.9:g.111965534T>G , CM000673.1:g.111965534T>G | GRCh37 |
| NC_000011.8:g.111470744T>G | NCBI36 |
| NG_012337.2:g.12964T>G | |
| NG_012337.3:g.12964T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530923.6:c.*59T>G | ENSP00000432946.2:n.*59T>G | |
| ENST00000534010.2:c.314+5799T>G | ENSP00000433202.2:n.314+5799T>G | |
| ENST00000375549.8:c.320T>G MANE Select | ENSP00000364699.3:p.Leu107Arg | |
| ENST00000528021.6:c.314+5799T>G | ENSP00000432465.1:n.314+5799T>G | |
| ENST00000375549.7:c.320T>G | ENSP00000364699.3:p.Leu107Arg | |
| ENST00000525291.5:c.203T>G | ENSP00000436669.1:p.Leu68Arg | |
| ENST00000525987.5:n.319+5799T>G | ||
| ENST00000526592.5:c.*18T>G | ENSP00000432005.1:n.*18T>G | |
| ENST00000528021.5:c.314+5799T>G | ENSP00000432465.1:n.314+5799T>G | |
| ENST00000528048.5:c.175T>G | ENSP00000436217.1:p.Leu59Val | |
| ENST00000528182.5:c.313T>G | ENSP00000435475.1:p.Leu105Val | |
| ENST00000530923.5:c.364T>G | ||
| ENST00000531744.5:c.314+5799T>G | ENSP00000456957.1:n.314+5799T>G | |
| ENST00000532699.1:c.314+5799T>G | ENSP00000456434.1:n.314+5799T>G | |
| ENST00000534010.1:c.145+5799T>G | ||
| NM_001276503.1:c.175T>G | NP_001263432.1:p.Leu59Val | |
| NM_001276504.1:c.203T>G | NP_001263433.1:p.Leu68Arg | |
| NM_001276506.1:c.*18T>G | NP_001263435.1:n.*18T>G | |
| NM_003002.3:c.320T>G | NP_002993.1:p.Leu107Arg | |
| NR_077060.1:n.458T>G | ||
| NM_003002.4:c.320T>G MANE Select | NP_002993.1:p.Leu107Arg | |
| NM_001276503.2:c.175T>G | NP_001263432.1:p.Leu59Val | |
| NM_001276504.2:c.203T>G | NP_001263433.1:p.Leu68Arg | |
| NM_001276506.2:c.*18T>G | NP_001263435.1:n.*18T>G | |
| NR_077060.2:n.409T>G |