Linked Data
dbSNP Id:
rs781930482
ExAC:
X:53561141 T / C
gnomAD v2:
X-53561141-T-C
gnomAD v3:
X-53534180-T-C
gnomAD v4:
X-53534180-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53534180T>C , CM000685.2:g.53534180T>C | GRCh38 |
| NC_000023.10:g.53561141T>C , CM000685.1:g.53561141T>C | GRCh37 |
| NC_000023.9:g.53577866T>C | NCBI36 |
| NG_016261.2:g.157554A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704099.1:c.12633A>G | ENSP00000515693.1:p.Arg4211= | |
| ENST00000262854.11:c.12849A>G MANE Select | ENSP00000262854.6:p.Arg4283= | |
| ENST00000262854.10:c.12849A>G | ENSP00000262854.6:p.Arg4283= | |
| ENST00000342160.7:c.12849A>G | ENSP00000340648.3:p.Arg4283= | |
| ENST00000426907.5:c.3316A>G | ||
| ENST00000488459.1:n.162A>G | ||
| ENST00000612484.4:c.12822A>G | ENSP00000479451.1:p.Arg4274= | |
| NM_031407.6:c.12849A>G | NP_113584.3:p.Arg4283= | |
| XM_005261965.2:c.12849A>G | XP_005262022.1:p.Arg4283= | |
| XM_011530746.1:c.13098A>G | XP_011529048.1:p.Arg4366= | |
| XM_011530747.1:c.13098A>G | XP_011529049.1:p.Arg4366= | |
| XM_011530748.1:c.13098A>G | XP_011529050.1:p.Arg4366= | |
| XM_011530749.1:c.13098A>G | XP_011529051.1:p.Arg4366= | |
| XM_011530750.1:c.13098A>G | XP_011529052.1:p.Arg4366= | |
| XM_011530751.1:c.13098A>G | XP_011529053.1:p.Arg4366= | |
| XM_011530752.1:c.13095A>G | XP_011529054.1:p.Arg4365= | |
| XM_011530753.1:c.13053A>G | XP_011529055.1:p.Arg4351= | |
| XM_011530754.1:c.13050A>G | XP_011529056.1:p.Arg4350= | |
| XM_011530755.1:c.13047A>G | XP_011529057.1:p.Arg4349= | |
| XM_011530756.1:c.12999A>G | XP_011529058.1:p.Arg4333= | |
| XM_011530757.1:c.12696A>G | XP_011529059.1:p.Arg4232= | |
| XM_005261965.4:c.12849A>G | XP_005262022.1:p.Arg4283= | |
| XM_011530751.2:c.13098A>G | XP_011529053.1:p.Arg4366= | |
| XM_017029191.1:c.13230A>G | XP_016884680.1:p.Arg4410= | |
| XM_017029192.1:c.13227A>G | XP_016884681.1:p.Arg4409= | |
| XM_017029193.1:c.13209A>G | XP_016884682.1:p.Arg4403= | |
| XM_017029194.1:c.13185A>G | XP_016884683.1:p.Arg4395= | |
| XM_017029195.1:c.13182A>G | XP_016884684.1:p.Arg4394= | |
| XM_017029196.1:c.13179A>G | XP_016884685.1:p.Arg4393= | |
| XM_017029197.1:c.13131A>G | XP_016884686.1:p.Arg4377= | |
| XM_017029198.2:c.13119A>G | XP_016884687.1:p.Arg4373= | |
| XM_017029199.1:c.13119A>G | XP_016884688.1:p.Arg4373= | |
| XM_017029200.1:c.13119A>G | XP_016884689.1:p.Arg4373= | |
| XM_017029201.1:c.13119A>G | XP_016884690.1:p.Arg4373= | |
| XM_017029202.1:c.13119A>G | XP_016884691.1:p.Arg4373= | |
| XM_017029203.1:c.13119A>G | XP_016884692.1:p.Arg4373= | |
| XM_017029204.1:c.12981A>G | XP_016884693.1:p.Arg4327= | |
| XM_017029206.1:c.12828A>G | XP_016884695.1:p.Arg4276= | |
| XM_024452322.1:c.13098A>G | XP_024308090.1:p.Arg4366= | |
| NM_031407.7:c.12849A>G MANE Select | NP_113584.3:p.Arg4283= |