Linked Data
ClinVar Variation Id:
2495198
ClinVar RCV Id:
RCV004287225
dbSNP Id:
rs1306652195
gnomAD v2:
17-43220901-A-C
gnomAD v4:
17-45143534-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45143534A>C , CM000679.2:g.45143534A>C | GRCh38 |
| NC_000017.10:g.43220901A>C , CM000679.1:g.43220901A>C | GRCh37 |
| NC_000017.9:g.40576684A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321854.13:c.881A>C MANE Select | ENSP00000314440.8:p.Gln294Pro | |
| ENST00000321854.12:c.881A>C | ENSP00000314440.8:p.Gln294Pro | |
| ENST00000398322.7:c.881A>C | ENSP00000381367.2:p.Gln294Pro | |
| ENST00000431281.5:c.919A>C | ENSP00000405969.1:p.Ser307Arg | |
| ENST00000585553.5:n.1599A>C | ||
| ENST00000586346.5:c.919A>C | ENSP00000465484.1:p.Ser307Arg | |
| ENST00000591859.5:c.919A>C | ENSP00000465610.1:p.Ser307Arg | |
| ENST00000592162.5:c.741A>C | ENSP00000466305.1:p.Pro247= | |
| NM_001135704.1:c.919A>C | NP_001129176.1:p.Ser307Arg | |
| NM_001135705.1:c.881A>C | NP_001129177.1:p.Gln294Pro | |
| NM_001135706.1:c.919A>C | NP_001129178.1:p.Ser307Arg | |
| NM_024722.2:c.881A>C | NP_078998.1:p.Gln294Pro | |
| XM_005257673.1:c.922A>C | XP_005257730.1:p.Ser308Arg | |
| XM_005257674.1:c.922A>C | XP_005257731.1:p.Ser308Arg | |
| XM_005257677.1:c.919A>C | XP_005257734.1:p.Ser307Arg | |
| XM_006722085.1:c.884A>C | XP_006722148.1:p.Gln295Pro | |
| XM_006722088.1:c.782A>C | XP_006722151.1:p.Gln261Pro | |
| XM_006722089.1:c.744A>C | XP_006722152.1:p.Pro248= | |
| XM_006722090.1:c.741A>C | XP_006722153.1:p.Pro247= | |
| XM_011525255.1:c.922A>C | XP_011523557.1:p.Ser308Arg | |
| XM_011525256.1:c.922A>C | XP_011523558.1:p.Ser308Arg | |
| XM_011525257.1:c.779A>C | XP_011523559.1:p.Gln260Pro | |
| NM_001135705.2:c.881A>C | NP_001129177.1:p.Gln294Pro | |
| NM_001135706.2:c.919A>C | NP_001129178.1:p.Ser307Arg | |
| NM_001135707.2:c.*924A>C | NP_001129179.1:n.*924A>C | |
| NM_001321352.1:c.919A>C | NP_001308281.1:p.Ser307Arg | |
| NM_001321353.1:c.919A>C | NP_001308282.1:p.Ser307Arg | |
| NM_024722.3:c.881A>C | NP_078998.1:p.Gln294Pro | |
| XM_006722085.2:c.884A>C | XP_006722148.1:p.Gln295Pro | |
| XM_017025084.1:c.940A>C | XP_016880573.1:p.Ser314Arg | |
| XM_017025085.1:c.940A>C | XP_016880574.1:p.Ser314Arg | |
| XM_017025086.1:c.940A>C | XP_016880575.1:p.Ser314Arg | |
| XM_017025087.1:c.922A>C | XP_016880576.1:p.Ser308Arg | |
| XM_017025088.1:c.919A>C | XP_016880577.1:p.Ser307Arg | |
| XM_017025089.2:c.*754A>C | XP_016880578.1:n.*754A>C | |
| XM_017025090.1:c.902A>C | XP_016880579.1:p.Gln301Pro | |
| XM_017025091.1:c.881A>C | XP_016880580.1:p.Gln294Pro | |
| XM_017025092.2:c.881A>C | XP_016880581.1:p.Gln294Pro | |
| XM_017025094.1:c.*924A>C | XP_016880583.1:n.*924A>C | |
| XM_017025095.1:c.800A>C | XP_016880584.1:p.Gln267Pro | |
| XM_017025096.1:c.762A>C | XP_016880585.1:p.Pro254= | |
| XM_017025097.1:c.779A>C | XP_016880586.1:p.Gln260Pro | |
| XM_017025098.1:c.779A>C | XP_016880587.1:p.Gln260Pro | |
| XM_017025099.1:c.741A>C | XP_016880588.1:p.Pro247= | |
| XM_024450949.1:c.*754A>C | XP_024306717.1:n.*754A>C | |
| NM_001135705.3:c.881A>C MANE Select | NP_001129177.1:p.Gln294Pro | |
| NM_001135706.3:c.919A>C | NP_001129178.1:p.Ser307Arg | |
| NM_001135707.3:c.*924A>C | NP_001129179.1:n.*924A>C | |
| NM_001321352.2:c.919A>C | NP_001308281.1:p.Ser307Arg | |
| NM_001321353.2:c.919A>C | NP_001308282.1:p.Ser307Arg | |
| NM_024722.4:c.881A>C | NP_078998.1:p.Gln294Pro | |
| NM_001378111.1:c.*924A>C | NP_001365040.1:n.*924A>C | |
| NM_001378112.1:c.*924A>C | NP_001365041.1:n.*924A>C |