Linked Data
ClinVar Variation Id:
379772
dbSNP Id:
rs8177999
ExAC:
8:48872671 C / A
gnomAD v2:
8-48872671-C-A
gnomAD v3:
8-47960111-C-A
gnomAD v4:
8-47960111-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960111C>A , CM000670.2:g.47960111C>A | GRCh38 |
| NC_000008.10:g.48872671C>A , CM000670.1:g.48872671C>A | GRCh37 |
| NC_000008.9:g.49035224C>A | NCBI36 |
| NG_023435.1:g.5073G>T , LRG_162:g.5073G>T | |
| NG_032967.1:g.4909C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697591.1:n.57G>T | ||
| ENST00000314191.7:c.16G>T MANE Select | ENSP00000313420.3:p.Ala6Ser | |
| ENST00000314191.6:c.16G>T | ENSP00000313420.3:p.Ala6Ser | |
| ENST00000338368.7:c.16G>T | ENSP00000345182.4:p.Ala6Ser | |
| NM_001081640.1:c.16G>T | NP_001075109.1:p.Ala6Ser | |
| NM_006904.6:c.16G>T , LRG_162t1:c.16G>T | NP_008835.5:p.Ala6Ser | |
| XM_011517567.1:c.16G>T | XP_011515869.1:p.Ala6Ser | |
| XM_011517568.1:c.16G>T | XP_011515870.1:p.Ala6Ser | |
| NM_001081640.2:c.16G>T | NP_001075109.1:p.Ala6Ser | |
| NM_006904.7:c.16G>T MANE Select | NP_008835.5:p.Ala6Ser |