Linked Data
dbSNP Id:
rs745866758
gnomAD v2:
1-1956393-C-G
gnomAD v3:
1-2024954-C-G
gnomAD v4:
1-2024954-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2024954C>G , CM000663.2:g.2024954C>G | GRCh38 |
| NC_000001.10:g.1956393C>G , CM000663.1:g.1956393C>G | GRCh37 |
| NC_000001.9:g.1946253C>G | NCBI36 |
| NG_008168.1:g.10626C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378585.7:c.81C>G MANE Select | ENSP00000367848.4:p.Asp27Glu | |
| ENST00000638411.1:c.81C>G | ENSP00000491632.1:p.Asp27Glu | |
| ENST00000638604.1:n.145C>G | ||
| ENST00000638771.1:c.81C>G | ENSP00000492435.1:p.Asp27Glu | |
| ENST00000639045.1:c.*67C>G | ENSP00000491997.1:n.*67C>G | |
| ENST00000639777.1:n.685C>G | ||
| ENST00000639935.1:n.118C>G | ||
| ENST00000640030.1:c.21C>G | ENSP00000491411.1:p.Asp7Glu | |
| ENST00000640067.1:c.81C>G | ENSP00000491844.1:p.Asp27Glu | |
| ENST00000640423.1:n.90C>G | ||
| ENST00000640949.1:c.81C>G | ENSP00000492500.1:p.Asp27Glu | |
| ENST00000378585.5:c.81C>G | ENSP00000367848.4:p.Asp27Glu | |
| NM_000815.4:c.81C>G | NP_000806.2:p.Asp27Glu | |
| XM_011541194.1:c.120C>G | XP_011539496.1:p.Asp40Glu | |
| XM_011541194.3:c.120C>G | XP_011539496.1:p.Asp40Glu | |
| XM_017000936.1:c.786C>G | XP_016856425.1:p.Asp262Glu | |
| NM_000815.5:c.81C>G MANE Select | NP_000806.2:p.Asp27Glu |