Linked Data
ClinVar Variation Id:
464309
dbSNP Id:
rs144016130
ExAC:
14:53521185 T / C
gnomAD v2:
14-53521185-T-C
gnomAD v3:
14-53054467-T-C
gnomAD v4:
14-53054467-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53054467T>C , CM000676.2:g.53054467T>C | GRCh38 |
| NC_000014.8:g.53521185T>C , CM000676.1:g.53521185T>C | GRCh37 |
| NC_000014.7:g.52590935T>C | NCBI36 |
| NG_042832.1:g.103862A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323669.10:c.1817A>G | ENSP00000327104.6:p.His606Arg | |
| ENST00000673822.2:c.2408A>G MANE Select | ENSP00000500986.2:p.His803Arg | |
| ENST00000673827.1:n.2084A>G | ||
| ENST00000673930.1:c.1796A>G | ENSP00000501087.1:p.His599Arg | |
| ENST00000674014.1:c.1752A>G | ||
| ENST00000674152.1:c.1186A>G | ||
| ENST00000323669.9:c.2408A>G | ENSP00000327104.5:p.His803Arg | |
| ENST00000357758.3:c.2408A>G | ENSP00000350401.3:p.His803Arg | |
| ENST00000395606.5:c.2429A>G | ENSP00000378970.1:p.His810Arg | |
| ENST00000555400.1:n.765A>G | ||
| ENST00000556027.5:n.2999A>G | ||
| ENST00000612692.4:c.2021A>G | ENSP00000483405.1:p.His674Arg | |
| NM_001160147.1:c.2429A>G | NP_001153619.1:p.His810Arg | |
| NM_001160148.1:c.2408A>G | NP_001153620.1:p.His803Arg | |
| NM_030637.2:c.2408A>G | NP_085140.2:p.His803Arg | |
| XM_005268102.1:c.2510A>G | XP_005268159.1:p.His837Arg | |
| XM_005268103.1:c.2429A>G | XP_005268160.1:p.His810Arg | |
| XM_005268105.1:c.2279A>G | XP_005268162.1:p.His760Arg | |
| XM_011537188.1:c.2531A>G | XP_011535490.1:p.His844Arg | |
| XM_011537189.1:c.2531A>G | XP_011535491.1:p.His844Arg | |
| XM_005268102.3:c.2510A>G | XP_005268159.1:p.His837Arg | |
| XM_005268103.3:c.2429A>G | XP_005268160.1:p.His810Arg | |
| XM_005268105.3:c.2279A>G | XP_005268162.1:p.His760Arg | |
| XM_011537188.3:c.2531A>G | XP_011535490.1:p.His844Arg | |
| XM_011537189.3:c.2531A>G | XP_011535491.1:p.His844Arg | |
| XM_017021668.2:c.2510A>G | XP_016877157.1:p.His837Arg | |
| XM_017021669.2:c.2279A>G | XP_016877158.1:p.His760Arg | |
| NM_001160147.2:c.2429A>G | NP_001153619.1:p.His810Arg | |
| NM_001160148.2:c.2408A>G MANE Select | NP_001153620.1:p.His803Arg | |
| NM_030637.3:c.2408A>G | NP_085140.2:p.His803Arg |