ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00058306 (AMR)
Genomes Max Group AF
0.00040281 (AMR)
Exomes Max Group AF
0.00056768 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4102379G>A , CM000681.2:g.4102379G>A | GRCh38 |
| NC_000019.9:g.4102377G>A , CM000681.1:g.4102377G>A | GRCh37 |
| NC_000019.8:g.4053377G>A | NCBI36 |
| NG_007996.1:g.26750C>T , LRG_750:g.26750C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.964C>T | ||
| ENST00000687128.1:n.964C>T | ||
| ENST00000689792.1:n.465C>T | ||
| ENST00000262948.10:c.525C>T MANE Select | ENSP00000262948.4:p.Ile175= | |
| ENST00000262948.9:c.525C>T | ENSP00000262948.3:p.Ile175= | |
| ENST00000394867.8:c.234C>T | ENSP00000378336.1:p.Ile78= | |
| ENST00000593364.5:n.472C>T | ||
| ENST00000597008.5:n.126C>T | ||
| ENST00000599345.1:n.795C>T | ||
| ENST00000601786.5:n.826C>T | ||
| ENST00000602167.5:n.245C>T | ||
| NM_030662.3:c.525C>T , LRG_750t1:c.525C>T | NP_109587.1:p.Ile175= | |
| XM_006722799.2:c.525C>T | XP_006722862.1:p.Ile175= | |
| XM_011528133.1:c.-46C>T | XP_011526435.1:n.-46C>T | |
| XM_017026989.1:c.525C>T | XP_016882478.1:p.Ile175= | |
| XM_017026990.1:c.525C>T | XP_016882479.1:p.Ile175= | |
| XM_017026991.1:c.525C>T | XP_016882480.1:p.Ile175= | |
| NM_030662.4:c.525C>T MANE Select | NP_109587.1:p.Ile175= |