Linked Data
dbSNP Id:
rs1228793366
gnomAD v2:
4-20620885-C-G
gnomAD v3:
4-20619262-C-G
gnomAD v4:
4-20619262-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.20619262C>G , CM000666.2:g.20619262C>G | GRCh38 |
| NC_000004.11:g.20620885C>G , CM000666.1:g.20620885C>G | GRCh37 |
| NC_000004.10:g.20229983C>G | NCBI36 |
| NG_047105.1:g.372338C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504154.6:c.*253C>G MANE Select | ENSP00000422591.1:n.*253C>G | |
| ENST00000273739.9:c.*253C>G | ENSP00000273739.5:n.*253C>G | |
| ENST00000504154.5:c.*253C>G | ENSP00000422591.1:n.*253C>G | |
| ENST00000512993.1:c.237-1142C>G | ||
| ENST00000622093.4:c.*253C>G | ENSP00000482129.1:n.*253C>G | |
| NM_001289135.1:c.*253C>G | NP_001276064.1:n.*253C>G | |
| NM_001289135.2:c.*253C>G | NP_001276064.1:n.*253C>G | |
| NM_001289136.1:c.*253C>G | NP_001276065.1:n.*253C>G | |
| NM_001289136.2:c.*253C>G | NP_001276065.1:n.*253C>G | |
| NM_004787.2:c.*253C>G | NP_004778.1:n.*253C>G | |
| NM_004787.3:c.*253C>G | NP_004778.1:n.*253C>G | |
| XM_005248211.2:c.*253C>G | XP_005248268.1:n.*253C>G | |
| XM_006713986.2:c.*253C>G | XP_006714049.1:n.*253C>G | |
| XM_011513909.1:c.*253C>G | XP_011512211.1:n.*253C>G | |
| XM_011513910.1:c.*253C>G | XP_011512212.1:n.*253C>G | |
| XM_005248211.3:c.*253C>G | XP_005248268.1:n.*253C>G | |
| XM_006713986.3:c.*253C>G | XP_006714049.1:n.*253C>G | |
| XM_011513909.2:c.*253C>G | XP_011512211.1:n.*253C>G | |
| XM_011513910.2:c.*253C>G | XP_011512212.2:n.*253C>G | |
| XM_017008845.1:c.*253C>G | XP_016864334.1:n.*253C>G | |
| NM_004787.4:c.*253C>G MANE Select | NP_004778.1:n.*253C>G | |
| NM_001289135.3:c.*253C>G | NP_001276064.1:n.*253C>G | |
| NM_001289136.3:c.*253C>G | NP_001276065.1:n.*253C>G |