gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005938 (SAS)
Exomes Max Group AF
0.00006246 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13885110G>T , CM000680.2:g.13885110G>T | GRCh38 |
| NC_000018.9:g.13885109G>T , CM000680.1:g.13885109G>T | GRCh37 |
| NC_000018.8:g.13875109G>T | NCBI36 |
| NG_011819.1:g.35427C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.409C>A MANE Select | ENSP00000333821.2:p.Arg137= | |
| ENST00000327606.3:c.409C>A | ENSP00000333821.2:p.Arg137= | |
| NM_000529.2:c.409C>A MANE Select | NP_000520.1:p.Arg137= | |
| NM_001291911.1:c.409C>A | NP_001278840.1:p.Arg137= | |
| XM_017025781.1:c.409C>A | XP_016881270.1:p.Arg137= |