Linked Data
dbSNP Id:
rs1359219335
gnomAD v2:
3-52327258-C-G
gnomAD v3:
3-52293242-C-G
gnomAD v4:
3-52293242-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52293242C>G , CM000665.2:g.52293242C>G | GRCh38 |
| NC_000003.11:g.52327258C>G , CM000665.1:g.52327258C>G | GRCh37 |
| NC_000003.10:g.52302298C>G | NCBI36 |
| NG_023246.1:g.10423C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.*116C>G MANE Select | ENSP00000389175.2:n.*116C>G | |
| ENST00000436784.6:c.*116C>G | ENSP00000389175.2:n.*116C>G | |
| ENST00000471180.5:c.*58+50C>G | ENSP00000417526.1:n.*58+50C>G | |
| ENST00000473032.5:c.*58+50C>G | ENSP00000418951.1:n.*58+50C>G | |
| ENST00000486393.5:c.*1051C>G | ENSP00000419868.1:n.*1051C>G | |
| ENST00000489173.1:n.1915-65C>G | ||
| NM_145262.3:c.*116C>G | NP_660305.2:n.*116C>G | |
| NR_026699.1:n.1786C>G | ||
| NR_026700.1:n.842+50C>G | ||
| NR_026701.1:n.1734+50C>G | ||
| NR_026702.1:n.772+50C>G | ||
| XM_005264878.2:c.*807C>G | XP_005264935.1:n.*807C>G | |
| XR_245095.2:n.2889+50C>G | ||
| XM_017005730.1:c.*116C>G | XP_016861219.1:n.*116C>G | |
| XM_024453351.1:c.*116C>G | XP_024309119.1:n.*116C>G | |
| XM_024453352.1:c.*807C>G | XP_024309120.1:n.*807C>G | |
| XR_001740022.2:n.3540+50C>G | ||
| XR_001740023.2:n.3064+50C>G | ||
| XR_245095.4:n.2890+50C>G | ||
| NM_145262.4:c.*116C>G MANE Select | NP_660305.2:n.*116C>G | |
| NR_026699.2:n.1778C>G | ||
| NR_026700.2:n.834+50C>G | ||
| NR_026701.2:n.1726+50C>G | ||
| NR_026702.2:n.764+50C>G | ||
| NM_001144951.2:c.*807C>G | NP_001138423.1:n.*807C>G |