gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00081134 (AMR)
Genomes Max Group AF
0.00070776 (AMR)
Exomes Max Group AF
0.00075238 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132175552A>G , CM000670.2:g.132175552A>G | GRCh38 |
| NC_000008.10:g.133187799A>G , CM000670.1:g.133187799A>G | GRCh37 |
| NC_000008.9:g.133256981A>G | NCBI36 |
| NG_008854.2:g.310206T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.834T>C MANE Select | ENSP00000373648.3:p.Leu278= | |
| ENST00000521134.6:c.474T>C | ENSP00000429799.1:p.Leu158= | |
| ENST00000638588.1:c.507T>C | ENSP00000491940.1:p.Leu169= | |
| ENST00000639358.1:c.484T>C | ||
| ENST00000639496.1:c.507T>C | ENSP00000491165.1:p.Leu169= | |
| ENST00000388996.8:c.834T>C | ENSP00000373648.3:p.Leu278= | |
| ENST00000519445.5:c.834T>C | ENSP00000428790.1:p.Leu278= | |
| ENST00000519589.1:n.612T>C | ||
| ENST00000521134.5:c.474T>C | ENSP00000429799.1:p.Leu158= | |
| ENST00000621976.1:c.471T>C | ENSP00000482510.1:p.Leu157= | |
| NM_001204824.1:c.474T>C | NP_001191753.1:p.Leu158= | |
| NM_004519.3:c.834T>C | NP_004510.1:p.Leu278= | |
| XM_005250914.2:c.-323T>C | XP_005250971.1:n.-323T>C | |
| XM_006716555.2:c.126T>C | XP_006716618.1:p.Leu42= | |
| XM_011517026.1:c.474T>C | XP_011515328.1:p.Leu158= | |
| XM_005250914.3:c.-323T>C | XP_005250971.1:n.-323T>C | |
| XM_006716555.3:c.126T>C | XP_006716618.1:p.Leu42= | |
| XM_011517026.2:c.474T>C | XP_011515328.1:p.Leu158= | |
| XM_017013400.1:c.612T>C | XP_016868889.1:p.Leu204= | |
| NM_004519.4:c.834T>C MANE Select | NP_004510.1:p.Leu278= | |
| NM_001204824.2:c.474T>C | NP_001191753.1:p.Leu158= |