Linked Data
dbSNP Id:
rs751136751
ExAC:
16:4848065 T / C
gnomAD v2:
16-4848065-T-C
gnomAD v3:
16-4798064-T-C
gnomAD v4:
16-4798064-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4798064T>C , CM000678.2:g.4798064T>C | GRCh38 |
| NC_000016.9:g.4848065T>C , CM000678.1:g.4848065T>C | GRCh37 |
| NC_000016.8:g.4788066T>C | NCBI36 |
| NG_032174.1:g.9887A>G , LRG_455:g.9887A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.645+7A>G MANE Select | ENSP00000322832.6:n.645+7A>G | |
| ENST00000322048.11:c.645+7A>G | ENSP00000322832.5:n.645+7A>G | |
| ENST00000586153.1:c.291+7A>G | ENSP00000464699.1:n.291+7A>G | |
| ENST00000586336.5:n.744+7A>G | ||
| ENST00000586504.5:c.425+7A>G | ||
| ENST00000587377.5:c.658+7A>G | ENSP00000468343.1:n.658+7A>G | |
| ENST00000587711.5:c.330+7A>G | ENSP00000467459.1:n.330+7A>G | |
| ENST00000587843.5:c.*383+7A>G | ENSP00000465970.1:n.*383+7A>G | |
| ENST00000588201.5:c.*636+7A>G | ENSP00000466529.1:n.*636+7A>G | |
| ENST00000589543.5:n.602+7A>G | ||
| ENST00000591292.5:n.1974+7A>G | ||
| ENST00000591392.5:c.573+7A>G | ENSP00000467509.1:n.573+7A>G | |
| ENST00000592019.1:c.77-249A>G | ||
| NM_024589.2:c.645+7A>G , LRG_455t1:c.645+7A>G | NP_078865.1:n.645+7A>G | |
| NR_046480.1:n.969+7A>G | ||
| XM_006720947.2:c.645+7A>G | XP_006721010.1:n.645+7A>G | |
| XM_006720948.2:c.375+7A>G | XP_006721011.1:n.375+7A>G | |
| XM_006720947.4:c.645+7A>G | XP_006721010.1:n.645+7A>G | |
| XM_006720948.4:c.375+7A>G | XP_006721011.1:n.375+7A>G | |
| NM_024589.3:c.645+7A>G MANE Select | NP_078865.1:n.645+7A>G | |
| NR_046480.2:n.652+7A>G |