Linked Data
dbSNP Id:
rs754682749
ExAC:
17:29283482 G / A
gnomAD v2:
17-29283482-G-A
gnomAD v3:
17-30956464-G-A
gnomAD v4:
17-30956464-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30956464G>A , CM000679.2:g.30956464G>A | GRCh38 |
| NC_000017.10:g.29283482G>A , CM000679.1:g.29283482G>A | GRCh37 |
| NC_000017.9:g.26307608G>A | NCBI36 |
| NG_051975.1:g.39729G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330889.8:c.1106G>A MANE Select | ENSP00000329468.3:p.Arg369Gln | |
| ENST00000330889.7:c.1106G>A | ENSP00000329468.3:p.Arg369Gln | |
| ENST00000470962.1:n.526G>A | ||
| ENST00000480980.1:n.540G>A | ||
| ENST00000580525.5:c.1124G>A | ENSP00000464121.1:p.Arg375Gln | |
| ENST00000584828.5:c.402+73G>A | ||
| ENST00000585130.5:c.*705G>A | ENSP00000464120.1:n.*705G>A | |
| NM_018404.2:c.1106G>A | NP_060874.1:p.Arg369Gln | |
| XM_005258008.2:c.1124G>A | XP_005258065.1:p.Arg375Gln | |
| XM_005258011.2:c.1061G>A | XP_005258068.1:p.Arg354Gln | |
| XM_006721973.2:c.1051+73G>A | XP_006722036.1:n.1051+73G>A | |
| XM_011524993.1:c.1121G>A | XP_011523295.1:p.Arg374Gln | |
| XM_011524994.1:c.1103G>A | XP_011523296.1:p.Arg368Gln | |
| NM_001346712.1:c.1124G>A | NP_001333641.1:p.Arg375Gln | |
| NM_001346714.1:c.1103G>A | NP_001333643.1:p.Arg368Gln | |
| NM_001346716.1:c.1033+73G>A | NP_001333645.1:n.1033+73G>A | |
| NR_144488.1:n.1305G>A | ||
| XM_024450831.1:c.1106G>A | XP_024306599.1:p.Arg369Gln | |
| XM_024450832.1:c.1121G>A | XP_024306600.1:p.Arg374Gln | |
| XM_024450833.1:c.1061G>A | XP_024306601.1:p.Arg354Gln | |
| XM_024450834.1:c.1051+73G>A | XP_024306602.1:n.1051+73G>A | |
| XM_024450835.1:c.740G>A | XP_024306603.1:p.Arg247Gln | |
| NM_018404.3:c.1106G>A MANE Select | NP_060874.1:p.Arg369Gln | |
| NM_001346712.2:c.1124G>A | NP_001333641.1:p.Arg375Gln | |
| NM_001346714.2:c.1103G>A | NP_001333643.1:p.Arg368Gln | |
| NM_001346716.2:c.1033+73G>A | NP_001333645.1:n.1033+73G>A | |
| NR_144488.2:n.1096G>A |