gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001328 (AMR)
Exomes Max Group AF
0.00001781 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122741996C>A , CM000666.2:g.122741996C>A | GRCh38 |
| NC_000004.11:g.123663151C>A , CM000666.1:g.123663151C>A | GRCh37 |
| NC_000004.10:g.123882601C>A | NCBI36 |
| NG_021203.1:g.14295C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314218.8:c.104C>A MANE Select | ENSP00000319062.3:p.Ser35Ter | |
| ENST00000314218.7:c.104C>A | ENSP00000319062.3:p.Ser35Ter | |
| ENST00000433287.1:c.104C>A | ENSP00000398912.1:p.Ser35Ter | |
| ENST00000542236.5:c.104C>A | ENSP00000438273.1:p.Ser35Ter | |
| NM_001178007.1:c.104C>A | NP_001171478.1:p.Ser35Ter | |
| NM_152618.2:c.104C>A | NP_689831.2:p.Ser35Ter | |
| XM_011531680.1:c.104C>A | XP_011529982.1:p.Ser35Ter | |
| XM_011531680.2:c.104C>A | XP_011529982.1:p.Ser35Ter | |
| XM_017007831.1:c.104C>A | XP_016863320.1:p.Ser35Ter | |
| NM_152618.3:c.104C>A MANE Select | NP_689831.2:p.Ser35Ter | |
| NM_001178007.2:c.104C>A | NP_001171478.1:p.Ser35Ter |