Linked Data
dbSNP Id:
rs777481450
ExAC:
16:4847858 G / A
gnomAD v2:
16-4847858-G-A
gnomAD v4:
16-4797857-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797857G>A , CM000678.2:g.4797857G>A | GRCh38 |
| NC_000016.9:g.4847858G>A , CM000678.1:g.4847858G>A | GRCh37 |
| NC_000016.8:g.4787859G>A | NCBI36 |
| NG_032174.1:g.10094C>T , LRG_455:g.10094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.696-17C>T MANE Select | ENSP00000322832.6:n.696-17C>T | |
| ENST00000322048.11:c.696-17C>T | ENSP00000322832.5:n.696-17C>T | |
| ENST00000586153.1:c.342-21C>T | ENSP00000464699.1:n.342-21C>T | |
| ENST00000586336.5:n.795-17C>T | ||
| ENST00000586504.5:c.426-17C>T | ||
| ENST00000587377.5:c.*16-17C>T | ENSP00000468343.1:n.*16-17C>T | |
| ENST00000587711.5:c.381-17C>T | ENSP00000467459.1:n.381-17C>T | |
| ENST00000587843.5:c.*434-17C>T | ENSP00000465970.1:n.*434-17C>T | |
| ENST00000588201.5:c.*687-17C>T | ENSP00000466529.1:n.*687-17C>T | |
| ENST00000589543.5:n.653-17C>T | ||
| ENST00000591292.5:n.2025-17C>T | ||
| ENST00000591392.5:c.624-17C>T | ENSP00000467509.1:n.624-17C>T | |
| ENST00000592019.1:c.77-42C>T | ||
| NM_024589.2:c.696-17C>T , LRG_455t1:c.696-17C>T | NP_078865.1:n.696-17C>T | |
| NR_046480.1:n.1020-17C>T | ||
| XM_006720947.2:c.700C>T | XP_006721010.1:p.Pro234Ser | |
| XM_006720948.2:c.430C>T | XP_006721011.1:p.Pro144Ser | |
| XM_006720947.4:c.700C>T | XP_006721010.1:p.Pro234Ser | |
| XM_006720948.4:c.430C>T | XP_006721011.1:p.Pro144Ser | |
| NM_024589.3:c.696-17C>T MANE Select | NP_078865.1:n.696-17C>T | |
| NR_046480.2:n.703-17C>T |