Linked Data
ClinVar Variation Id:
2203067
ClinVar RCV Id:
RCV002634372
dbSNP Id:
rs202026994
ExAC:
16:4847861 C / T
gnomAD v2:
16-4847861-C-T
gnomAD v3:
16-4797860-C-T
gnomAD v4:
16-4797860-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797860C>T , CM000678.2:g.4797860C>T | GRCh38 |
| NC_000016.9:g.4847861C>T , CM000678.1:g.4847861C>T | GRCh37 |
| NC_000016.8:g.4787862C>T | NCBI36 |
| NG_032174.1:g.10091G>A , LRG_455:g.10091G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.696-20G>A MANE Select | ENSP00000322832.6:n.696-20G>A | |
| ENST00000322048.11:c.696-20G>A | ENSP00000322832.5:n.696-20G>A | |
| ENST00000586153.1:c.342-24G>A | ENSP00000464699.1:n.342-24G>A | |
| ENST00000586336.5:n.795-20G>A | ||
| ENST00000586504.5:c.426-20G>A | ||
| ENST00000587377.5:c.*16-20G>A | ENSP00000468343.1:n.*16-20G>A | |
| ENST00000587711.5:c.381-20G>A | ENSP00000467459.1:n.381-20G>A | |
| ENST00000587843.5:c.*434-20G>A | ENSP00000465970.1:n.*434-20G>A | |
| ENST00000588201.5:c.*687-20G>A | ENSP00000466529.1:n.*687-20G>A | |
| ENST00000589543.5:n.653-20G>A | ||
| ENST00000591292.5:n.2025-20G>A | ||
| ENST00000591392.5:c.624-20G>A | ENSP00000467509.1:n.624-20G>A | |
| ENST00000592019.1:c.77-45G>A | ||
| NM_024589.2:c.696-20G>A , LRG_455t1:c.696-20G>A | NP_078865.1:n.696-20G>A | |
| NR_046480.1:n.1020-20G>A | ||
| XM_006720947.2:c.697G>A | XP_006721010.1:p.Asp233Asn | |
| XM_006720948.2:c.427G>A | XP_006721011.1:p.Asp143Asn | |
| XM_006720947.4:c.697G>A | XP_006721010.1:p.Asp233Asn | |
| XM_006720948.4:c.427G>A | XP_006721011.1:p.Asp143Asn | |
| NM_024589.3:c.696-20G>A MANE Select | NP_078865.1:n.696-20G>A | |
| NR_046480.2:n.703-20G>A |