Linked Data
ClinVar Variation Id:
31227
ClinVar RCV Id:
RCV000024226
dbSNP Id:
rs749657986
ExAC:
16:4848565 C / G
gnomAD v2:
16-4848565-C-G
gnomAD v3:
16-4798564-C-G
gnomAD v4:
16-4798564-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4798564C>G , CM000678.2:g.4798564C>G | GRCh38 |
| NC_000016.9:g.4848565C>G , CM000678.1:g.4848565C>G | GRCh37 |
| NC_000016.8:g.4788566C>G | NCBI36 |
| NG_032174.1:g.9387G>C , LRG_455:g.9387G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.531+5G>C MANE Select | ENSP00000322832.6:n.531+5G>C | |
| ENST00000322048.11:c.531+5G>C | ENSP00000322832.5:n.531+5G>C | |
| ENST00000585653.1:n.668G>C | ||
| ENST00000586153.1:c.178-380G>C | ENSP00000464699.1:n.178-380G>C | |
| ENST00000586336.5:n.630+5G>C | ||
| ENST00000586504.5:c.311+5G>C | ||
| ENST00000587377.5:c.544+5G>C | ENSP00000468343.1:n.544+5G>C | |
| ENST00000587711.5:c.216+5G>C | ENSP00000467459.1:n.216+5G>C | |
| ENST00000587843.5:c.*269+5G>C | ENSP00000465970.1:n.*269+5G>C | |
| ENST00000588201.5:c.*522+5G>C | ENSP00000466529.1:n.*522+5G>C | |
| ENST00000589543.5:n.488+5G>C | ||
| ENST00000591292.5:n.1860+5G>C | ||
| ENST00000591392.5:c.459+5G>C | ENSP00000467509.1:n.459+5G>C | |
| ENST00000592019.1:c.77-749G>C | ||
| NM_024589.2:c.531+5G>C , LRG_455t1:c.531+5G>C | NP_078865.1:n.531+5G>C | |
| NR_046480.1:n.855+5G>C | ||
| XM_006720947.2:c.531+5G>C | XP_006721010.1:n.531+5G>C | |
| XM_006720948.2:c.261+5G>C | XP_006721011.1:n.261+5G>C | |
| XM_006720947.4:c.531+5G>C | XP_006721010.1:n.531+5G>C | |
| XM_006720948.4:c.261+5G>C | XP_006721011.1:n.261+5G>C | |
| NM_024589.3:c.531+5G>C MANE Select | NP_078865.1:n.531+5G>C | |
| NR_046480.2:n.538+5G>C |