Linked Data
dbSNP Id:
rs1165742774
gnomAD v2:
16-4848507-A-C
gnomAD v3:
16-4798506-A-C
gnomAD v4:
16-4798506-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4798506A>C , CM000678.2:g.4798506A>C | GRCh38 |
| NC_000016.9:g.4848507A>C , CM000678.1:g.4848507A>C | GRCh37 |
| NC_000016.8:g.4788508A>C | NCBI36 |
| NG_032174.1:g.9445T>G , LRG_455:g.9445T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.531+63T>G MANE Select | ENSP00000322832.6:n.531+63T>G | |
| ENST00000322048.11:c.531+63T>G | ENSP00000322832.5:n.531+63T>G | |
| ENST00000585653.1:n.726T>G | ||
| ENST00000586153.1:c.178-322T>G | ENSP00000464699.1:n.178-322T>G | |
| ENST00000586336.5:n.630+63T>G | ||
| ENST00000586504.5:c.311+63T>G | ||
| ENST00000587377.5:c.544+63T>G | ENSP00000468343.1:n.544+63T>G | |
| ENST00000587711.5:c.216+63T>G | ENSP00000467459.1:n.216+63T>G | |
| ENST00000587843.5:c.*269+63T>G | ENSP00000465970.1:n.*269+63T>G | |
| ENST00000588201.5:c.*522+63T>G | ENSP00000466529.1:n.*522+63T>G | |
| ENST00000589543.5:n.488+63T>G | ||
| ENST00000591292.5:n.1860+63T>G | ||
| ENST00000591392.5:c.459+63T>G | ENSP00000467509.1:n.459+63T>G | |
| ENST00000592019.1:c.77-691T>G | ||
| NM_024589.2:c.531+63T>G , LRG_455t1:c.531+63T>G | NP_078865.1:n.531+63T>G | |
| NR_046480.1:n.855+63T>G | ||
| XM_006720947.2:c.531+63T>G | XP_006721010.1:n.531+63T>G | |
| XM_006720948.2:c.261+63T>G | XP_006721011.1:n.261+63T>G | |
| XM_006720947.4:c.531+63T>G | XP_006721010.1:n.531+63T>G | |
| XM_006720948.4:c.261+63T>G | XP_006721011.1:n.261+63T>G | |
| NM_024589.3:c.531+63T>G MANE Select | NP_078865.1:n.531+63T>G | |
| NR_046480.2:n.538+63T>G |