Linked Data
ClinVar Variation Id:
530800
ClinVar RCV Id:
RCV001513533
dbSNP Id:
rs549672547
ExAC:
16:4847956 A / G
gnomAD v2:
16-4847956-A-G
gnomAD v3:
16-4797955-A-G
gnomAD v4:
16-4797955-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797955A>G , CM000678.2:g.4797955A>G | GRCh38 |
| NC_000016.9:g.4847956A>G , CM000678.1:g.4847956A>G | GRCh37 |
| NC_000016.8:g.4787957A>G | NCBI36 |
| NG_032174.1:g.9996T>C , LRG_455:g.9996T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.678T>C MANE Select | ENSP00000322832.6:p.His226= | |
| ENST00000322048.11:c.678T>C | ENSP00000322832.5:p.His226= | |
| ENST00000586153.1:c.324T>C | ENSP00000464699.1:p.His108= | |
| ENST00000586336.5:n.777T>C | ||
| ENST00000586504.5:c.426-115T>C | ||
| ENST00000587377.5:c.691T>C | ENSP00000468343.1:p.Ter231Gln | |
| ENST00000587711.5:c.363T>C | ENSP00000467459.1:p.His121= | |
| ENST00000587843.5:c.*416T>C | ENSP00000465970.1:n.*416T>C | |
| ENST00000588201.5:c.*669T>C | ENSP00000466529.1:n.*669T>C | |
| ENST00000589543.5:n.635T>C | ||
| ENST00000591292.5:n.2007T>C | ||
| ENST00000591392.5:c.606T>C | ENSP00000467509.1:p.His202= | |
| ENST00000592019.1:c.77-140T>C | ||
| NM_024589.2:c.678T>C , LRG_455t1:c.678T>C | NP_078865.1:p.His226= | |
| NR_046480.1:n.1002T>C | ||
| XM_006720947.2:c.678T>C | XP_006721010.1:p.His226= | |
| XM_006720948.2:c.408T>C | XP_006721011.1:p.His136= | |
| XM_006720947.4:c.678T>C | XP_006721010.1:p.His226= | |
| XM_006720948.4:c.408T>C | XP_006721011.1:p.His136= | |
| NM_024589.3:c.678T>C MANE Select | NP_078865.1:p.His226= | |
| NR_046480.2:n.685T>C |