Linked Data
ClinVar Variation Id:
284822
dbSNP Id:
rs750860886
ExAC:
2:71901416 T / G
gnomAD v2:
2-71901416-T-G
gnomAD v3:
2-71674286-T-G
gnomAD v4:
2-71674286-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71674286T>G , CM000664.2:g.71674286T>G | GRCh38 |
| NC_000002.11:g.71901416T>G , CM000664.1:g.71901416T>G | GRCh37 |
| NC_000002.10:g.71754924T>G | NCBI36 |
| NG_008694.1:g.225664T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3288T>G | ENSP00000513536.1:p.Asp1096Glu | |
| ENST00000698058.1:c.2505T>G | ENSP00000513537.1:p.Asp835Glu | |
| ENST00000698059.1:c.2613T>G | ENSP00000513538.1:p.Asp871Glu | |
| ENST00000258104.8:c.5757T>G MANE Plus Clinical | ENSP00000258104.3:p.Asp1919Glu | |
| ENST00000410020.8:c.5874T>G MANE Select | ENSP00000386881.3:p.Asp1958Glu | |
| ENST00000258104.7:c.5757T>G | ENSP00000258104.3:p.Asp1919Glu | |
| ENST00000394120.6:c.5760T>G | ENSP00000377678.2:p.Asp1920Glu | |
| ENST00000409366.5:c.5823T>G | ENSP00000386512.1:p.Asp1941Glu | |
| ENST00000409582.7:c.5871T>G | ENSP00000386547.3:p.Asp1957Glu | |
| ENST00000409651.5:c.5853T>G | ENSP00000386683.1:p.Asp1951Glu | |
| ENST00000409744.5:c.5781T>G | ENSP00000386285.1:p.Asp1927Glu | |
| ENST00000409762.5:c.5808T>G | ENSP00000387137.1:p.Asp1936Glu | |
| ENST00000410020.7:c.5874T>G | ENSP00000386881.3:p.Asp1958Glu | |
| ENST00000410041.1:c.5811T>G | ENSP00000386617.1:p.Asp1937Glu | |
| ENST00000413539.6:c.5850T>G | ENSP00000407046.2:p.Asp1950Glu | |
| ENST00000429174.6:c.5820T>G | ENSP00000398305.2:p.Asp1940Glu | |
| ENST00000479049.6:n.2642T>G | ||
| NM_001130455.1:c.5760T>G | NP_001123927.1:p.Asp1920Glu | |
| NM_001130976.1:c.5715T>G | NP_001124448.1:p.Asp1905Glu | |
| NM_001130977.1:c.5778T>G | NP_001124449.1:p.Asp1926Glu | |
| NM_001130978.1:c.5820T>G | NP_001124450.1:p.Asp1940Glu | |
| NM_001130979.1:c.5850T>G | NP_001124451.1:p.Asp1950Glu | |
| NM_001130980.1:c.5808T>G | NP_001124452.1:p.Asp1936Glu | |
| NM_001130981.1:c.5871T>G | NP_001124453.1:p.Asp1957Glu | |
| NM_001130982.1:c.5853T>G | NP_001124454.1:p.Asp1951Glu | |
| NM_001130983.1:c.5823T>G | NP_001124455.1:p.Asp1941Glu | |
| NM_001130984.1:c.5781T>G | NP_001124456.1:p.Asp1927Glu | |
| NM_001130985.1:c.5811T>G | NP_001124457.1:p.Asp1937Glu | |
| NM_001130986.1:c.5718T>G | NP_001124458.1:p.Asp1906Glu | |
| NM_001130987.1:c.5874T>G | NP_001124459.1:p.Asp1958Glu | |
| NM_003494.3:c.5757T>G | NP_003485.1:p.Asp1919Glu | |
| XM_005264584.3:c.5916T>G | XP_005264641.1:p.Asp1972Glu | |
| XM_005264585.3:c.5913T>G | XP_005264642.1:p.Asp1971Glu | |
| XM_005264584.4:c.5916T>G | XP_005264641.1:p.Asp1972Glu | |
| XM_005264585.5:c.5913T>G | XP_005264642.1:p.Asp1971Glu | |
| NM_001130987.2:c.5874T>G MANE Select | NP_001124459.1:p.Asp1958Glu | |
| NM_001130455.2:c.5760T>G | NP_001123927.1:p.Asp1920Glu | |
| NM_001130976.2:c.5715T>G | NP_001124448.1:p.Asp1905Glu | |
| NM_001130977.2:c.5778T>G | NP_001124449.1:p.Asp1926Glu | |
| NM_001130978.2:c.5820T>G | NP_001124450.1:p.Asp1940Glu | |
| NM_001130979.2:c.5850T>G | NP_001124451.1:p.Asp1950Glu | |
| NM_001130980.2:c.5808T>G | NP_001124452.1:p.Asp1936Glu | |
| NM_001130981.2:c.5871T>G | NP_001124453.1:p.Asp1957Glu | |
| NM_001130982.2:c.5853T>G | NP_001124454.1:p.Asp1951Glu | |
| NM_001130983.2:c.5823T>G | NP_001124455.1:p.Asp1941Glu | |
| NM_001130984.2:c.5781T>G | NP_001124456.1:p.Asp1927Glu | |
| NM_001130985.2:c.5811T>G | NP_001124457.1:p.Asp1937Glu | |
| NM_001130986.2:c.5718T>G | NP_001124458.1:p.Asp1906Glu | |
| NM_003494.4:c.5757T>G MANE Plus Clinical | NP_003485.1:p.Asp1919Glu |