Linked Data
dbSNP Id:
rs1439928134
gnomAD v2:
4-20620681-C-T
gnomAD v3:
4-20619058-C-T
gnomAD v4:
4-20619058-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.20619058C>T , CM000666.2:g.20619058C>T | GRCh38 |
| NC_000004.11:g.20620681C>T , CM000666.1:g.20620681C>T | GRCh37 |
| NC_000004.10:g.20229779C>T | NCBI36 |
| NG_047105.1:g.372134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504154.6:c.*49C>T MANE Select | ENSP00000422591.1:n.*49C>T | |
| ENST00000273739.9:c.*49C>T | ENSP00000273739.5:n.*49C>T | |
| ENST00000503823.5:c.*49C>T | ENSP00000427548.1:n.*49C>T | |
| ENST00000503837.5:c.4627C>T | ENSP00000422261.1:n.4627C>T | |
| ENST00000504154.5:c.*49C>T | ENSP00000422591.1:n.*49C>T | |
| ENST00000508541.1:n.2839C>T | ||
| ENST00000512993.1:c.237-1346C>T | ||
| ENST00000622093.4:c.*49C>T | ENSP00000482129.1:n.*49C>T | |
| NM_001289135.1:c.*49C>T | NP_001276064.1:n.*49C>T | |
| NM_001289135.2:c.*49C>T | NP_001276064.1:n.*49C>T | |
| NM_001289136.1:c.*49C>T | NP_001276065.1:n.*49C>T | |
| NM_001289136.2:c.*49C>T | NP_001276065.1:n.*49C>T | |
| NM_004787.2:c.*49C>T | NP_004778.1:n.*49C>T | |
| NM_004787.3:c.*49C>T | NP_004778.1:n.*49C>T | |
| XM_005248211.2:c.*49C>T | XP_005248268.1:n.*49C>T | |
| XM_006713986.2:c.*49C>T | XP_006714049.1:n.*49C>T | |
| XM_011513909.1:c.*49C>T | XP_011512211.1:n.*49C>T | |
| XM_011513910.1:c.*49C>T | XP_011512212.1:n.*49C>T | |
| XM_005248211.3:c.*49C>T | XP_005248268.1:n.*49C>T | |
| XM_006713986.3:c.*49C>T | XP_006714049.1:n.*49C>T | |
| XM_011513909.2:c.*49C>T | XP_011512211.1:n.*49C>T | |
| XM_011513910.2:c.*49C>T | XP_011512212.2:n.*49C>T | |
| XM_017008845.1:c.*49C>T | XP_016864334.1:n.*49C>T | |
| NM_004787.4:c.*49C>T MANE Select | NP_004778.1:n.*49C>T | |
| NM_001289135.3:c.*49C>T | NP_001276064.1:n.*49C>T | |
| NM_001289136.3:c.*49C>T | NP_001276065.1:n.*49C>T |