Linked Data
dbSNP Id:
rs1877031
ExAC:
17:37814080 G / A
gnomAD v2:
17-37814080-G-A
gnomAD v3:
17-39657827-G-A
gnomAD v4:
17-39657827-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39657827G>A , CM000679.2:g.39657827G>A | GRCh38 |
| NC_000017.10:g.37814080G>A , CM000679.1:g.37814080G>A | GRCh37 |
| NC_000017.9:g.35067606G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336308.10:c.350G>A MANE Select | ENSP00000337446.5:p.Arg117Gln | |
| ENST00000336308.9:c.350G>A | ENSP00000337446.5:p.Arg117Gln | |
| ENST00000394250.8:c.350G>A | ENSP00000377794.4:p.Arg117Gln | |
| ENST00000443521.1:c.350G>A | ENSP00000411710.1:p.Arg117Gln | |
| ENST00000460894.6:n.492G>A | ||
| ENST00000484773.6:n.548G>A | ||
| ENST00000488876.5:n.462G>A | ||
| ENST00000544210.6:c.350G>A | ENSP00000439869.2:p.Arg117Gln | |
| ENST00000577248.5:c.350G>A | ENSP00000463460.1:p.Arg117Gln | |
| ENST00000578232.5:n.406G>A | ||
| ENST00000578577.5:c.350G>A | ENSP00000464472.1:p.Arg117Gln | |
| ENST00000580551.5:n.494G>A | ||
| ENST00000580611.5:c.272G>A | ENSP00000463613.1:p.Arg91Gln | |
| ENST00000581894.5:c.350G>A | ENSP00000462859.1:p.Arg117Gln | |
| ENST00000582874.1:n.347G>A | ||
| ENST00000583419.5:c.350G>A | ENSP00000463681.1:p.Arg117Gln | |
| ENST00000583582.5:n.491G>A | ||
| ENST00000583718.5:c.350G>A | ENSP00000464204.1:p.Arg117Gln | |
| ENST00000585214.5:n.471G>A | ||
| NM_001165937.1:c.350G>A | NP_001159409.1:p.Arg117Gln | |
| NM_001165938.1:c.350G>A | NP_001159410.1:p.Arg117Gln | |
| NM_006804.3:c.350G>A | NP_006795.3:p.Arg117Gln | |
| XM_006721646.2:c.350G>A | XP_006721709.1:p.Arg117Gln | |
| XM_011524210.1:c.350G>A | XP_011522512.1:p.Arg117Gln | |
| XM_011524211.1:c.350G>A | XP_011522513.1:p.Arg117Gln | |
| XM_011524212.1:c.350G>A | XP_011522514.1:p.Arg117Gln | |
| XM_011524213.1:c.350G>A | XP_011522515.1:p.Arg117Gln | |
| XR_934353.1:n.492G>A | ||
| XR_934354.1:n.492G>A | ||
| XR_934355.1:n.492G>A | ||
| XM_017024041.2:c.350G>A | XP_016879530.1:p.Arg117Gln | |
| XM_024450549.1:c.-418G>A | XP_024306317.1:n.-418G>A | |
| NM_006804.4:c.350G>A MANE Select | NP_006795.3:p.Arg117Gln | |
| NM_001165937.2:c.350G>A | NP_001159409.1:p.Arg117Gln | |
| NM_001165938.2:c.350G>A | NP_001159410.1:p.Arg117Gln |