Linked Data
ClinVar Variation Id:
348089
dbSNP Id:
rs55740606
ExAC:
4:170321762 A / G
gnomAD v2:
4-170321762-A-G
gnomAD v3:
4-169400611-A-G
gnomAD v4:
4-169400611-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169400611A>G , CM000666.2:g.169400611A>G | GRCh38 |
| NC_000004.11:g.170321762A>G , CM000666.1:g.170321762A>G | GRCh37 |
| NC_000004.10:g.170558337A>G | NCBI36 |
| NG_027982.1:g.217017T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.3456T>C | ENSP00000508844.1:p.Asp1152= | |
| ENST00000685677.1:n.2922T>C | ||
| ENST00000686697.1:c.3141T>C | ENSP00000508689.1:p.Asp1047= | |
| ENST00000687054.1:n.4118T>C | ||
| ENST00000687528.1:c.*2359T>C | ENSP00000510228.1:n.*2359T>C | |
| ENST00000687643.1:c.3567T>C | ENSP00000509309.1:p.Asp1189= | |
| ENST00000688934.1:c.1647T>C | ENSP00000510760.1:p.Asp549= | |
| ENST00000690540.1:n.3074T>C | ||
| ENST00000507142.6:c.3624T>C MANE Select | ENSP00000424757.2:p.Asp1208= | |
| ENST00000638824.1:n.1752T>C | ||
| ENST00000439128.6:c.3540T>C | ENSP00000408020.2:p.Asp1180= | |
| ENST00000507142.5:c.3624T>C | ENSP00000424757.1:p.Asp1208= | |
| ENST00000510533.5:c.3408T>C | ENSP00000427653.1:p.Asp1136= | |
| ENST00000511633.5:c.3492T>C | ENSP00000423332.1:p.Asp1164= | |
| ENST00000512193.5:c.3333T>C | ENSP00000424938.1:p.Asp1111= | |
| NM_001199397.1:c.3624T>C | NP_001186326.1:p.Asp1208= | |
| NM_001199398.1:c.3492T>C | NP_001186327.1:p.Asp1164= | |
| NM_001199399.1:c.3333T>C | NP_001186328.1:p.Asp1111= | |
| NM_001199400.1:c.3408T>C | NP_001186329.1:p.Asp1136= | |
| NM_012224.2:c.3540T>C | NP_036356.1:p.Asp1180= | |
| XM_006714228.1:c.3447T>C | XP_006714291.1:p.Asp1149= | |
| XM_011532003.1:c.3540T>C | XP_011530305.1:p.Asp1180= | |
| XM_011532004.1:c.3408T>C | XP_011530306.1:p.Asp1136= | |
| XM_017008249.1:c.3003T>C | XP_016863738.1:p.Asp1001= | |
| XM_017008251.1:c.2919T>C | XP_016863740.1:p.Asp973= | |
| XM_017008252.2:c.2919T>C | XP_016863741.1:p.Asp973= | |
| XM_017008253.1:c.2472T>C | XP_016863742.1:p.Asp824= | |
| XM_017008254.1:c.2268T>C | XP_016863743.1:p.Asp756= | |
| XM_024454065.1:c.3003T>C | XP_024309833.1:p.Asp1001= | |
| XR_001741233.1:n.3909T>C | ||
| NM_001199397.3:c.3624T>C MANE Select | NP_001186326.1:p.Asp1208= | |
| NM_001199398.2:c.3492T>C | NP_001186327.1:p.Asp1164= | |
| NM_001199399.2:c.3333T>C | NP_001186328.1:p.Asp1111= | |
| NM_001199400.2:c.3408T>C | NP_001186329.1:p.Asp1136= | |
| NM_001374418.1:c.3624T>C | NP_001361347.1:p.Asp1208= | |
| NM_001374419.1:c.3540T>C | NP_001361348.1:p.Asp1180= | |
| NM_001374420.1:c.3489T>C | NP_001361349.1:p.Asp1163= | |
| NM_001374421.1:c.3141T>C | NP_001361350.1:p.Asp1047= | |
| NM_012224.3:c.3540T>C | NP_036356.1:p.Asp1180= | |
| NR_164630.1:n.4086T>C | ||
| NM_001199398.3:c.3492T>C | NP_001186327.1:p.Asp1164= | |
| NM_001199399.3:c.3333T>C | NP_001186328.1:p.Asp1111= | |
| NM_001199400.3:c.3408T>C | NP_001186329.1:p.Asp1136= | |
| NM_012224.4:c.3540T>C | NP_036356.1:p.Asp1180= |