gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002474 (NFE)
Exomes Max Group AF
0.0000254 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4110578C>T , CM000681.2:g.4110578C>T | GRCh38 |
| NC_000019.9:g.4110576C>T , CM000681.1:g.4110576C>T | GRCh37 |
| NC_000019.8:g.4061576C>T | NCBI36 |
| NG_007996.1:g.18551G>A , LRG_750:g.18551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.820G>A | ||
| ENST00000687128.1:n.820G>A | ||
| ENST00000262948.10:c.381G>A MANE Select | ENSP00000262948.4:p.Ser127= | |
| ENST00000262948.9:c.381G>A | ENSP00000262948.3:p.Ser127= | |
| ENST00000394867.8:c.90G>A | ENSP00000378336.1:p.Ser30= | |
| ENST00000599345.1:n.578G>A | ||
| NM_030662.3:c.381G>A , LRG_750t1:c.381G>A | NP_109587.1:p.Ser127= | |
| XM_006722799.2:c.381G>A | XP_006722862.1:p.Ser127= | |
| XM_017026989.1:c.381G>A | XP_016882478.1:p.Ser127= | |
| XM_017026990.1:c.381G>A | XP_016882479.1:p.Ser127= | |
| XM_017026991.1:c.381G>A | XP_016882480.1:p.Ser127= | |
| NM_030662.4:c.381G>A MANE Select | NP_109587.1:p.Ser127= |