Linked Data
dbSNP Id:
rs769420390
ExAC:
3:49064294 A / G
gnomAD v2:
3-49064294-A-G
gnomAD v4:
3-49026861-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026861A>G , CM000665.2:g.49026861A>G | GRCh38 |
| NC_000003.11:g.49064294A>G , CM000665.1:g.49064294A>G | GRCh37 |
| NC_000003.10:g.49039298A>G | NCBI36 |
| NG_012091.1:g.7582T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2685T>C | ENSP00000515567.1:p.Asp895= | |
| ENST00000703937.1:c.*1746T>C | ENSP00000515568.1:n.*1746T>C | |
| ENST00000326739.9:c.645T>C MANE Select | ENSP00000321584.4:p.Asp215= | |
| ENST00000429182.6:c.645T>C | ENSP00000393525.2:p.Asp215= | |
| ENST00000442157.2:c.570T>C | ENSP00000403502.2:p.Asp190= | |
| ENST00000462980.2:n.1160T>C | ||
| ENST00000472328.2:n.711T>C | ||
| ENST00000491610.2:n.605T>C | ||
| ENST00000676607.1:n.941T>C | ||
| ENST00000676627.1:n.1375T>C | ||
| ENST00000676708.1:n.1925T>C | ||
| ENST00000676864.1:n.1794T>C | ||
| ENST00000677010.1:c.681T>C | ENSP00000503089.1:p.Asp227= | |
| ENST00000677108.1:n.2551T>C | ||
| ENST00000677168.1:n.1117T>C | ||
| ENST00000677185.1:n.1208T>C | ||
| ENST00000677205.1:n.1429T>C | ||
| ENST00000677344.1:n.1919T>C | ||
| ENST00000677480.1:c.*322T>C | ENSP00000504378.1:n.*322T>C | |
| ENST00000677519.1:n.1355T>C | ||
| ENST00000677593.1:n.1201T>C | ||
| ENST00000677740.1:n.2150T>C | ||
| ENST00000677991.1:n.1818T>C | ||
| ENST00000678001.1:n.1138T>C | ||
| ENST00000678085.1:n.1201T>C | ||
| ENST00000678177.1:n.2494T>C | ||
| ENST00000678603.1:n.1723T>C | ||
| ENST00000678724.1:c.570T>C | ENSP00000503874.1:p.Asp190= | |
| ENST00000678920.1:n.803T>C | ||
| ENST00000679019.1:n.1415T>C | ||
| ENST00000679117.1:c.*460T>C | ENSP00000503240.1:n.*460T>C | |
| ENST00000679339.1:n.1486T>C | ||
| ENST00000326739.8:c.645T>C | ENSP00000321584.4:p.Asp215= | |
| ENST00000429182.5:c.439T>C | ||
| ENST00000442157.1:c.570T>C | ENSP00000403502.1:p.Asp190= | |
| ENST00000462980.1:n.547T>C | ||
| ENST00000491610.1:n.605T>C | ||
| NM_000884.2:c.645T>C | NP_000875.2:p.Asp215= | |
| XM_006713128.2:c.855T>C | XP_006713191.1:p.Asp285= | |
| XM_006713128.3:c.855T>C | XP_006713191.1:p.Asp285= | |
| XM_017006349.1:c.780T>C | XP_016861838.1:p.Asp260= | |
| XM_017006350.1:c.780T>C | XP_016861839.1:p.Asp260= | |
| NM_000884.3:c.645T>C MANE Select | NP_000875.2:p.Asp215= |