gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00301835 (SAS)
Genomes Max Group AF
0.00207706 (SAS)
Exomes Max Group AF
0.00301095 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786070T>C , CM000674.2:g.101786070T>C | GRCh38 |
| NC_000012.11:g.102179848T>C , CM000674.1:g.102179848T>C | GRCh37 |
| NC_000012.10:g.100703979T>C | NCBI36 |
| NG_021243.1:g.49798A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.513A>G MANE Select | ENSP00000299314.7:p.Ala171= | |
| ENST00000299314.11:c.513A>G | ENSP00000299314.7:p.Ala171= | |
| ENST00000549940.5:c.513A>G | ENSP00000449150.1:p.Ala171= | |
| ENST00000550352.1:n.307A>G | ||
| ENST00000552681.1:c.147A>G | ENSP00000449217.1:p.Ala49= | |
| NM_024312.4:c.513A>G | NP_077288.2:p.Ala171= | |
| XM_006719593.2:c.513A>G | XP_006719656.1:p.Ala171= | |
| XM_011538731.1:c.432A>G | XP_011537033.1:p.Ala144= | |
| XM_006719593.3:c.513A>G | XP_006719656.1:p.Ala171= | |
| XM_011538731.2:c.432A>G | XP_011537033.1:p.Ala144= | |
| XM_017019961.1:c.297A>G | XP_016875450.1:p.Ala99= | |
| XM_017019962.2:c.-838A>G | XP_016875451.1:n.-838A>G | |
| NM_024312.5:c.513A>G MANE Select | NP_077288.2:p.Ala171= |