Linked Data
ClinVar Variation Id:
582170
ClinVar RCV Id:
RCV000706169
dbSNP Id:
rs756917973
ExAC:
16:4847967 C / A
gnomAD v2:
16-4847967-C-A
gnomAD v3:
16-4797966-C-A
gnomAD v4:
16-4797966-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797966C>A , CM000678.2:g.4797966C>A | GRCh38 |
| NC_000016.9:g.4847967C>A , CM000678.1:g.4847967C>A | GRCh37 |
| NC_000016.8:g.4787968C>A | NCBI36 |
| NG_032174.1:g.9985G>T , LRG_455:g.9985G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.667G>T MANE Select | ENSP00000322832.6:p.Ala223Ser | |
| ENST00000322048.11:c.667G>T | ENSP00000322832.5:p.Ala223Ser | |
| ENST00000586153.1:c.313G>T | ENSP00000464699.1:p.Ala105Ser | |
| ENST00000586336.5:n.766G>T | ||
| ENST00000586504.5:c.425+105G>T | ||
| ENST00000587377.5:c.680G>T | ENSP00000468343.1:p.Arg227Leu | |
| ENST00000587711.5:c.352G>T | ENSP00000467459.1:p.Ala118Ser | |
| ENST00000587843.5:c.*405G>T | ENSP00000465970.1:n.*405G>T | |
| ENST00000588201.5:c.*658G>T | ENSP00000466529.1:n.*658G>T | |
| ENST00000589543.5:n.624G>T | ||
| ENST00000591292.5:n.1996G>T | ||
| ENST00000591392.5:c.595G>T | ENSP00000467509.1:p.Ala199Ser | |
| ENST00000592019.1:c.77-151G>T | ||
| NM_024589.2:c.667G>T , LRG_455t1:c.667G>T | NP_078865.1:p.Ala223Ser | |
| NR_046480.1:n.991G>T | ||
| XM_006720947.2:c.667G>T | XP_006721010.1:p.Ala223Ser | |
| XM_006720948.2:c.397G>T | XP_006721011.1:p.Ala133Ser | |
| XM_006720947.4:c.667G>T | XP_006721010.1:p.Ala223Ser | |
| XM_006720948.4:c.397G>T | XP_006721011.1:p.Ala133Ser | |
| NM_024589.3:c.667G>T MANE Select | NP_078865.1:p.Ala223Ser | |
| NR_046480.2:n.674G>T |