gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117557T>C , CM000681.2:g.4117557T>C | GRCh38 |
| NC_000019.9:g.4117555T>C , CM000681.1:g.4117555T>C | GRCh37 |
| NC_000019.8:g.4068555T>C | NCBI36 |
| NG_007996.1:g.11572A>G , LRG_750:g.11572A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.604A>G | ||
| ENST00000687128.1:n.604A>G | ||
| ENST00000262948.10:c.165A>G MANE Select | ENSP00000262948.4:p.Glu55= | |
| ENST00000262948.9:c.165A>G | ENSP00000262948.3:p.Glu55= | |
| ENST00000394867.8:c.-127A>G | ENSP00000378336.1:n.-127A>G | |
| ENST00000599345.1:n.362A>G | ||
| NM_030662.3:c.165A>G , LRG_750t1:c.165A>G | NP_109587.1:p.Glu55= | |
| XM_006722799.2:c.165A>G | XP_006722862.1:p.Glu55= | |
| XM_017026989.1:c.165A>G | XP_016882478.1:p.Glu55= | |
| XM_017026990.1:c.165A>G | XP_016882479.1:p.Glu55= | |
| XM_017026991.1:c.165A>G | XP_016882480.1:p.Glu55= | |
| NM_030662.4:c.165A>G MANE Select | NP_109587.1:p.Glu55= |