Linked Data
dbSNP Id:
rs766602842
ExAC:
5:82649080 T / G
gnomAD v2:
5-82649080-T-G
gnomAD v4:
5-83353261-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83353261T>G , CM000667.2:g.83353261T>G | GRCh38 |
| NC_000005.9:g.82649080T>G , CM000667.1:g.82649080T>G | GRCh37 |
| NC_000005.8:g.82684836T>G | NCBI36 |
| NG_047086.1:g.280853T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396027.9:c.*19T>G MANE Select | ENSP00000379344.4:n.*19T>G | |
| ENST00000282268.7:c.*19T>G | ENSP00000282268.3:n.*19T>G | |
| ENST00000338635.10:c.*19T>G | ENSP00000342011.6:n.*19T>G | |
| ENST00000396027.8:c.*19T>G | ENSP00000379344.4:n.*19T>G | |
| ENST00000511817.1:c.*19T>G | ENSP00000421491.1:n.*19T>G | |
| NM_003401.3:c.*19T>G | NP_003392.1:n.*19T>G | |
| NM_022406.2:c.*19T>G | NP_071801.1:n.*19T>G | |
| NM_022550.2:c.*19T>G | NP_072044.1:n.*19T>G | |
| XM_005248595.1:c.*19T>G | XP_005248652.1:n.*19T>G | |
| XM_011543626.1:c.*19T>G | XP_011541928.1:n.*19T>G | |
| XM_011543629.1:c.*19T>G | XP_011541931.1:n.*19T>G | |
| NM_001318012.1:c.*19T>G | NP_001304941.1:n.*19T>G | |
| NM_003401.4:c.*19T>G | NP_003392.1:n.*19T>G | |
| NM_022406.3:c.*19T>G | NP_071801.1:n.*19T>G | |
| NM_022550.3:c.*19T>G | NP_072044.1:n.*19T>G | |
| XM_017009827.2:c.894-17006T>G | XP_016865316.1:n.894-17006T>G | |
| NM_001318012.2:c.*19T>G | NP_001304941.1:n.*19T>G | |
| NM_003401.5:c.*19T>G MANE Select | NP_003392.1:n.*19T>G | |
| NM_022406.4:c.*19T>G | NP_071801.1:n.*19T>G | |
| NM_001318012.3:c.*19T>G | NP_001304941.1:n.*19T>G | |
| NM_022406.5:c.*19T>G | NP_071801.1:n.*19T>G | |
| NM_022550.4:c.*19T>G | NP_072044.1:n.*19T>G |