gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00068788 (NFE)
Genomes Max Group AF
0.0007947 (NFE)
Exomes Max Group AF
0.00067155 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148118448T>C , CM000667.2:g.148118448T>C | GRCh38 |
| NC_000005.9:g.147498011T>C , CM000667.1:g.147498011T>C | GRCh37 |
| NC_000005.8:g.147478204T>C | NCBI36 |
| NG_009633.1:g.59477T>C , LRG_110:g.59477T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.2124T>C MANE Select | ENSP00000256084.7:p.Ala708= | |
| ENST00000256084.7:c.2124T>C | ENSP00000256084.7:p.Ala708= | |
| ENST00000359874.7:c.2124T>C | ENSP00000352936.3:p.Ala708= | |
| ENST00000398454.5:c.2124T>C | ENSP00000381472.1:p.Ala708= | |
| ENST00000507988.5:n.2288T>C | ||
| ENST00000508733.5:c.2067T>C | ENSP00000421519.1:p.Ala689= | |
| NM_001127698.1:c.2124T>C | NP_001121170.1:p.Ala708= | |
| NM_001127699.1:c.2124T>C | NP_001121171.1:p.Ala708= | |
| NM_006846.3:c.2124T>C , LRG_110t1:c.2124T>C | NP_006837.2:p.Ala708= | |
| XM_011537550.1:c.2067T>C | XP_011535852.1:p.Ala689= | |
| XM_011537551.1:c.2040T>C | XP_011535853.1:p.Ala680= | |
| XM_011537551.2:c.2040T>C | XP_011535853.1:p.Ala680= | |
| NM_001127698.2:c.2124T>C | NP_001121170.1:p.Ala708= | |
| NM_001127699.2:c.2124T>C | NP_001121171.1:p.Ala708= | |
| NM_006846.4:c.2124T>C MANE Select | NP_006837.2:p.Ala708= |