ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000587 (SAS)
Genomes Max Group AF
0.00000623 (NFE)
Exomes Max Group AF
0.00000616 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.135965059A>G , CM000685.2:g.135965059A>G | GRCh38 |
| NC_000023.10:g.135047218A>G , CM000685.1:g.135047218A>G | GRCh37 |
| NC_000023.9:g.134874884A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680510.2:c.*158T>C | ENSP00000505521.1:n.*158T>C | |
| ENST00000305963.3:c.361T>C MANE Select | ENSP00000306220.2:p.Leu121= | |
| ENST00000679621.1:c.361T>C | ENSP00000505226.1:p.Leu121= | |
| ENST00000680510.1:c.*158T>C | ENSP00000505521.1:n.*158T>C | |
| ENST00000681201.1:c.*116T>C | ENSP00000506673.1:n.*116T>C | |
| ENST00000305963.2:c.361T>C | ENSP00000306220.2:p.Leu121= | |
| NM_173470.1:c.361T>C | NP_775741.1:p.Leu121= | |
| NM_001330000.1:c.361T>C | NP_001316929.1:p.Leu121= | |
| NM_173470.2:c.361T>C | NP_775741.1:p.Leu121= | |
| NM_001330000.2:c.361T>C | NP_001316929.1:p.Leu121= | |
| NM_173470.3:c.361T>C MANE Select | NP_775741.1:p.Leu121= |