Linked Data
ClinVar Variation Id:
135147
dbSNP Id:
rs34666647
ExAC:
8:145737701 C / T
gnomAD v2:
8-145737701-C-T
gnomAD v3:
8-144512318-C-T
gnomAD v4:
8-144512318-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144512318C>T , CM000670.2:g.144512318C>T | GRCh38 |
| NC_000008.10:g.145737701C>T , CM000670.1:g.145737701C>T | GRCh37 |
| NC_000008.9:g.145708509C>T | NCBI36 |
| NG_016430.1:g.10509G>A | |
| NG_016430.2:g.10509G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617875.6:c.3062G>A MANE Select | ENSP00000482313.2:p.Arg1021Gln | |
| ENST00000301323.7:c.79G>A | ||
| ENST00000529424.2:n.49+7G>A | ||
| ENST00000531875.2:c.308G>A | ENSP00000477910.1:p.Arg103Gln | |
| ENST00000617875.4:c.3062G>A | ENSP00000482313.1:p.Arg1021Gln | |
| ENST00000621189.4:c.1991G>A | ENSP00000483145.1:p.Arg664Gln | |
| NM_004260.3:c.3062G>A | NP_004251.3:p.Arg1021Gln | |
| XM_011517380.1:c.3137G>A | XP_011515682.1:p.Arg1046Gln | |
| XM_011517381.1:c.3041G>A | XP_011515683.1:p.Arg1014Gln | |
| XM_011517382.1:c.2945G>A | XP_011515684.1:p.Arg982Gln | |
| XM_011517383.1:c.2939G>A | XP_011515685.1:p.Arg980Gln | |
| XM_011517384.1:c.2864G>A | XP_011515686.1:p.Arg955Gln | |
| XM_011517385.1:c.2000G>A | XP_011515687.1:p.Arg667Gln | |
| XR_928366.1:n.3178G>A | ||
| XR_928367.1:n.3172-55G>A | ||
| XR_928368.1:n.3010G>A | ||
| XM_011517384.3:c.2864G>A | XP_011515686.1:p.Arg955Gln | |
| XM_017013991.2:c.3227G>A | XP_016869480.1:p.Arg1076Gln | |
| XM_017013992.2:c.3152G>A | XP_016869481.1:p.Arg1051Gln | |
| XM_017013993.2:c.3137G>A | XP_016869482.1:p.Arg1046Gln | |
| XM_017013994.2:c.3131G>A | XP_016869483.1:p.Arg1044Gln | |
| XM_017013995.2:c.3062G>A | XP_016869484.1:p.Arg1021Gln | |
| XM_017013996.2:c.3227G>A | XP_016869485.1:p.Arg1076Gln | |
| XM_017013997.2:c.3029G>A | XP_016869486.1:p.Arg1010Gln | |
| XM_017013998.1:c.3152G>A | XP_016869487.1:p.Arg1051Gln | |
| XM_017013999.2:c.2939G>A | XP_016869488.1:p.Arg980Gln | |
| XM_017014000.1:c.2090G>A | XP_016869489.1:p.Arg697Gln | |
| XM_017014001.2:c.2000G>A | XP_016869490.1:p.Arg667Gln | |
| XR_001745626.2:n.3264G>A | ||
| XR_001745627.2:n.3258-55G>A | ||
| XR_001745628.2:n.3094G>A | ||
| XR_001745629.2:n.2957G>A | ||
| XR_001745630.2:n.2759G>A | ||
| NM_004260.4:c.3062G>A MANE Select | NP_004251.4:p.Arg1021Gln |