Linked Data
ClinVar Variation Id:
21520
dbSNP Id:
rs80338805
ExAC:
18:2937867 C / A
gnomAD v2:
18-2937867-C-A
gnomAD v3:
18-2937869-C-A
gnomAD v4:
18-2937869-C-A
PubMed:
PMID:20301735
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2937869C>A , CM000680.2:g.2937869C>A | GRCh38 |
| NC_000018.9:g.2937867C>A , CM000680.1:g.2937867C>A | GRCh37 |
| NC_000018.8:g.2927867C>A | NCBI36 |
| NG_007507.1:g.79079G>T , LRG_174:g.79079G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261596.9:c.991G>T | ENSP00000261596.4:p.Ala331Ser | |
| ENST00000697039.1:c.991G>T | ENSP00000513061.1:p.Ala331Ser | |
| ENST00000697040.1:c.991G>T | ENSP00000513062.1:p.Ala331Ser | |
| ENST00000697042.1:c.991G>T | ENSP00000513064.1:p.Ala331Ser | |
| ENST00000677752.1:c.991G>T MANE Select | ENSP00000504857.1:p.Ala331Ser | |
| ENST00000261596.8:c.991G>T | ENSP00000261596.4:p.Ala331Ser | |
| NM_014646.2:c.991G>T , LRG_174t1:c.991G>T | NP_055461.1:p.Ala331Ser | |
| XM_005258177.3:c.1102G>T | XP_005258234.1:p.Ala368Ser | |
| XM_005258178.2:c.991G>T | XP_005258235.1:p.Ala331Ser | |
| XM_005258179.3:c.991G>T | XP_005258236.1:p.Ala331Ser | |
| XR_935074.1:n.1120G>T | ||
| XM_005258177.4:c.1102G>T | XP_005258234.1:p.Ala368Ser | |
| XM_005258178.3:c.991G>T | XP_005258235.1:p.Ala331Ser | |
| XM_005258179.5:c.991G>T | XP_005258236.1:p.Ala331Ser | |
| XM_017026098.1:c.991G>T | XP_016881587.1:p.Ala331Ser | |
| XM_017026099.1:c.991G>T | XP_016881588.1:p.Ala331Ser | |
| XR_935074.2:n.1165G>T | ||
| NM_001375808.1:c.991G>T | NP_001362737.1:p.Ala331Ser | |
| NM_001375809.1:c.991G>T | NP_001362738.1:p.Ala331Ser | |
| NM_001375808.2:c.991G>T MANE Select | NP_001362737.1:p.Ala331Ser |