Linked Data
ClinVar Variation Id:
326570
ClinVar RCV Id:
RCV000396056
dbSNP Id:
rs555969171
gnomAD v2:
18-2917901-G-A
gnomAD v3:
18-2917903-G-A
gnomAD v4:
18-2917903-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2917903G>A , CM000680.2:g.2917903G>A | GRCh38 |
| NC_000018.9:g.2917901G>A , CM000680.1:g.2917901G>A | GRCh37 |
| NC_000018.8:g.2907901G>A | NCBI36 |
| NG_007507.1:g.99045C>T , LRG_174:g.99045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261596.9:c.*2390C>T | ENSP00000261596.4:n.*2390C>T | |
| ENST00000697039.1:c.2546+2875C>T | ENSP00000513061.1:n.2546+2875C>T | |
| ENST00000697040.1:c.*2390C>T | ENSP00000513062.1:n.*2390C>T | |
| ENST00000697041.1:c.4116C>T | ENSP00000513063.1:n.4116C>T | |
| ENST00000677752.1:c.*2390C>T MANE Select | ENSP00000504857.1:n.*2390C>T | |
| ENST00000261596.8:c.*2390C>T | ENSP00000261596.4:n.*2390C>T | |
| NM_014646.2:c.*2390C>T , LRG_174t1:c.*2390C>T | NP_055461.1:n.*2390C>T | |
| XM_005258177.3:c.*2390C>T | XP_005258234.1:n.*2390C>T | |
| XM_005258178.2:c.*2390C>T | XP_005258235.1:n.*2390C>T | |
| XM_005258179.3:c.*2390C>T | XP_005258236.1:n.*2390C>T | |
| XM_005258177.4:c.*2390C>T | XP_005258234.1:n.*2390C>T | |
| XM_005258178.3:c.*2390C>T | XP_005258235.1:n.*2390C>T | |
| XM_005258179.5:c.*2390C>T | XP_005258236.1:n.*2390C>T | |
| XM_017026098.1:c.*2390C>T | XP_016881587.1:n.*2390C>T | |
| XM_017026099.1:c.*2390C>T | XP_016881588.1:n.*2390C>T | |
| NM_001375808.1:c.*2390C>T | NP_001362737.1:n.*2390C>T | |
| NM_001375809.1:c.*2390C>T | NP_001362738.1:n.*2390C>T | |
| NM_001375808.2:c.*2390C>T MANE Select | NP_001362737.1:n.*2390C>T |