Linked Data
ClinVar Variation Id:
206452
dbSNP Id:
rs773450573
ExAC:
17:46024048 G / A
gnomAD v2:
17-46024048-G-A
gnomAD v3:
17-47946682-G-A
gnomAD v4:
17-47946682-G-A
PubMed:
PMID:24266778
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47946682G>A , CM000679.2:g.47946682G>A | GRCh38 |
| NC_000017.10:g.46024048G>A , CM000679.1:g.46024048G>A | GRCh37 |
| NC_000017.9:g.43379047G>A | NCBI36 |
| NG_008744.1:g.10160G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225573.5:c.557G>A | ENSP00000225573.5:p.Arg186Gln | |
| ENST00000434554.7:c.632G>A | ENSP00000399960.3:p.Arg211Gln | |
| ENST00000582171.6:c.*351G>A | ENSP00000463994.1:n.*351G>A | |
| ENST00000583599.6:c.446G>A | ENSP00000463919.2:p.Arg149Gln | |
| ENST00000584061.6:c.617G>A | ENSP00000463972.2:p.Arg206Gln | |
| ENST00000584806.2:n.355G>A | ||
| ENST00000641285.1:n.466G>A | ||
| ENST00000641305.1:n.2185G>A | ||
| ENST00000641323.1:c.*705G>A | ENSP00000492965.1:n.*705G>A | |
| ENST00000641427.1:n.686G>A | ||
| ENST00000641511.1:c.418G>A | ||
| ENST00000641703.1:c.402G>A | ENSP00000493219.1:n.402G>A | |
| ENST00000641709.1:c.*508G>A | ENSP00000493349.1:n.*508G>A | |
| ENST00000641856.1:c.*1194G>A | ENSP00000493224.1:n.*1194G>A | |
| ENST00000642017.2:c.686G>A MANE Select | ENSP00000493302.2:p.Arg229Gln | |
| ENST00000225573.4:c.686G>A | ENSP00000225573.4:p.Arg229Gln | |
| ENST00000434554.6:c.557G>A | ENSP00000399960.2:p.Arg186Gln | |
| ENST00000582171.5:c.*351G>A | ENSP00000463994.1:n.*351G>A | |
| ENST00000584806.1:n.355G>A | ||
| ENST00000585320.5:c.*168G>A | ENSP00000462345.1:n.*168G>A | |
| NM_018129.3:c.686G>A | NP_060599.1:p.Arg229Gln | |
| XM_005257500.2:c.446G>A | XP_005257557.1:p.Arg149Gln | |
| XM_011524968.1:c.401G>A | XP_011523270.1:p.Arg134Gln | |
| XM_005257500.3:c.446G>A | XP_005257557.1:p.Arg149Gln | |
| XM_011524968.2:c.401G>A | XP_011523270.1:p.Arg134Gln | |
| XM_017024813.1:c.446G>A | XP_016880302.1:p.Arg149Gln | |
| NM_018129.4:c.686G>A MANE Select | NP_060599.1:p.Arg229Gln |