Linked Data
ClinVar Variation Id:
695674
dbSNP Id:
rs148209667
ExAC:
4:25146399 T / C
gnomAD v2:
4-25146399-T-C
gnomAD v3:
4-25144777-T-C
gnomAD v4:
4-25144777-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25144777T>C , CM000666.2:g.25144777T>C | GRCh38 |
| NC_000004.11:g.25146399T>C , CM000666.1:g.25146399T>C | GRCh37 |
| NC_000004.10:g.24755497T>C | NCBI36 |
| NG_028222.1:g.20806A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.1023A>G MANE Select | ENSP00000371535.2:p.Arg341= | |
| ENST00000680581.1:c.1023A>G | ENSP00000506483.1:p.Arg341= | |
| ENST00000680824.1:n.2239A>G | ||
| ENST00000681071.1:n.1315A>G | ||
| ENST00000681341.1:n.2164A>G | ||
| ENST00000681948.1:c.1278A>G | ENSP00000505991.1:p.Arg426= | |
| ENST00000358971.7:c.*821A>G | ENSP00000351857.3:n.*821A>G | |
| ENST00000382103.6:c.1023A>G | ENSP00000371535.2:p.Arg341= | |
| ENST00000503150.1:c.305A>G | ||
| ENST00000505513.1:n.323A>G | ||
| ENST00000514585.5:c.*724A>G | ENSP00000421880.1:n.*724A>G | |
| NM_016955.3:c.1023A>G | NP_058651.3:p.Arg341= | |
| XM_005248168.2:c.786A>G | XP_005248225.1:p.Arg262= | |
| XM_006713965.2:c.843A>G | XP_006714028.1:p.Arg281= | |
| XM_011513846.1:c.1020A>G | XP_011512148.1:p.Arg340= | |
| XM_011513847.1:c.990A>G | XP_011512149.1:p.Arg330= | |
| XM_011513848.1:c.843A>G | XP_011512150.1:p.Arg281= | |
| XM_011513846.2:c.1020A>G | XP_011512148.1:p.Arg340= | |
| XM_011513847.2:c.990A>G | XP_011512149.1:p.Arg330= | |
| XM_017008277.1:c.1278A>G | XP_016863766.1:p.Arg426= | |
| XM_017008278.1:c.600A>G | XP_016863767.1:p.Arg200= | |
| NM_016955.4:c.1023A>G MANE Select | NP_058651.3:p.Arg341= |