gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00095315 (SAS)
Genomes Max Group AF
0.00040806 (SAS)
Exomes Max Group AF
0.00095403 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770150T>G , CM000674.2:g.101770150T>G | GRCh38 |
| NC_000012.11:g.102163928T>G , CM000674.1:g.102163928T>G | GRCh37 |
| NC_000012.10:g.100688059T>G | NCBI36 |
| NG_021243.1:g.65718A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1155A>C MANE Select | ENSP00000299314.7:p.Ser385= | |
| ENST00000299314.11:c.1155A>C | ENSP00000299314.7:p.Ser385= | |
| ENST00000549940.5:c.1155A>C | ENSP00000449150.1:p.Ser385= | |
| NM_024312.4:c.1155A>C | NP_077288.2:p.Ser385= | |
| XM_006719593.2:c.1155A>C | XP_006719656.1:p.Ser385= | |
| XM_011538731.1:c.1074A>C | XP_011537033.1:p.Ser358= | |
| XM_006719593.3:c.1155A>C | XP_006719656.1:p.Ser385= | |
| XM_011538731.2:c.1074A>C | XP_011537033.1:p.Ser358= | |
| XM_017019961.1:c.939A>C | XP_016875450.1:p.Ser313= | |
| XM_017019962.2:c.-73A>C | XP_016875451.1:n.-73A>C | |
| NM_024312.5:c.1155A>C MANE Select | NP_077288.2:p.Ser385= |