ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017658 (AFR)
Genomes Max Group AF
0.00016636 (AFR)
Exomes Max Group AF
0.00011828 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92501581G>A , CM000669.2:g.92501581G>A | GRCh38 |
| NC_000007.13:g.92130895G>A , CM000669.1:g.92130895G>A | GRCh37 |
| NC_000007.12:g.91968831G>A | NCBI36 |
| NG_008341.1:g.31951C>T | |
| NG_008341.2:g.31951C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2509C>T MANE Select | ENSP00000248633.4:p.Leu837= | |
| ENST00000248633.8:c.2509C>T | ENSP00000248633.4:p.Leu837= | |
| ENST00000428214.5:c.2338C>T | ENSP00000394413.1:p.Leu780= | |
| ENST00000438045.5:c.1543C>T | ENSP00000410438.1:p.Leu515= | |
| ENST00000484913.5:n.2548C>T | ||
| ENST00000496420.5:n.2401C>T | ||
| NM_000466.2:c.2509C>T | NP_000457.1:p.Leu837= | |
| NM_001282677.1:c.2338C>T | NP_001269606.1:p.Leu780= | |
| NM_001282678.1:c.1885C>T | NP_001269607.1:p.Leu629= | |
| XM_005250433.3:c.760C>T | XP_005250490.1:p.Leu254= | |
| XR_242246.3:n.2605C>T | ||
| XM_017012319.2:c.760C>T | XP_016867808.1:p.Leu254= | |
| XR_001744808.2:n.1536C>T | ||
| XR_242246.5:n.2556C>T | ||
| NM_000466.3:c.2509C>T MANE Select | NP_000457.1:p.Leu837= | |
| NM_001282677.2:c.2338C>T | NP_001269606.1:p.Leu780= | |
| NM_001282678.2:c.1885C>T | NP_001269607.1:p.Leu629= |