gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0006495 (NFE)
Genomes Max Group AF
0.00040503 (NFE)
Exomes Max Group AF
0.00065689 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18078583C>T , CM000684.2:g.18078583C>T | GRCh38 |
| NC_000022.10:g.18561349C>T , CM000684.1:g.18561349C>T | GRCh37 |
| NC_000022.9:g.16941349C>T | NCBI36 |
| NG_008339.1:g.5664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.207C>T MANE Select | ENSP00000382648.4:p.Ala69= | |
| ENST00000474897.6:c.207C>T | ENSP00000434235.2:p.Ala69= | |
| ENST00000329627.11:c.207C>T | ENSP00000331106.5:p.Ala69= | |
| ENST00000399744.7:c.207C>T | ENSP00000382648.3:p.Ala69= | |
| ENST00000428061.2:c.207C>T | ENSP00000412441.2:p.Ala69= | |
| ENST00000474897.5:c.207C>T | ENSP00000434235.1:p.Ala69= | |
| ENST00000610387.4:c.207C>T | ENSP00000482091.1:p.Ala69= | |
| NM_001127649.2:c.207C>T | NP_001121121.1:p.Ala69= | |
| NM_001199319.1:c.207C>T | NP_001186248.1:p.Ala69= | |
| NM_017929.5:c.207C>T | NP_060399.1:p.Ala69= | |
| NM_001127649.3:c.207C>T MANE Select | NP_001121121.1:p.Ala69= | |
| NM_001199319.2:c.207C>T | NP_001186248.1:p.Ala69= | |
| NM_017929.6:c.207C>T | NP_060399.1:p.Ala69= |