Linked Data
ClinVar Variation Id:
334291
ClinVar RCV Id:
RCV000402266
dbSNP Id:
rs530505647
ExAC:
2:217280027 G / A
gnomAD v2:
2-217280027-G-A
gnomAD v3:
2-216415304-G-A
gnomAD v4:
2-216415304-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216415304G>A , CM000664.2:g.216415304G>A | GRCh38 |
| NC_000002.11:g.217280027G>A , CM000664.1:g.217280027G>A | GRCh37 |
| NC_000002.10:g.216988272G>A | NCBI36 |
| NG_009771.1:g.7891G>A , LRG_108:g.7891G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.600G>A | ENSP00000394410.2:p.Ser200= | |
| ENST00000430374.6:c.600G>A | ENSP00000405077.2:p.Ser200= | |
| ENST00000444508.6:c.600G>A | ENSP00000398969.2:p.Ser200= | |
| ENST00000697898.1:n.961G>A | ||
| ENST00000697899.1:c.600G>A | ENSP00000513470.1:p.Ser200= | |
| ENST00000697900.1:n.876G>A | ||
| ENST00000697901.1:c.600G>A | ENSP00000513471.1:p.Ser200= | |
| ENST00000697902.1:n.832G>A | ||
| ENST00000697903.1:c.600G>A | ENSP00000513472.1:p.Ser200= | |
| ENST00000697904.1:c.600G>A | ENSP00000513473.1:p.Ser200= | |
| ENST00000697905.1:c.600G>A | ENSP00000513474.1:p.Ser200= | |
| ENST00000697906.1:c.600G>A | ENSP00000513475.1:p.Ser200= | |
| ENST00000697907.1:c.600G>A | ENSP00000513476.1:p.Ser200= | |
| ENST00000357276.9:c.600G>A MANE Select | ENSP00000349823.4:p.Ser200= | |
| ENST00000357276.8:c.600G>A | ENSP00000349823.4:p.Ser200= | |
| ENST00000358207.9:c.600G>A | ENSP00000350940.5:p.Ser200= | |
| ENST00000392128.6:c.192G>A | ENSP00000375974.2:p.Ser64= | |
| ENST00000427645.5:c.297G>A | ENSP00000392997.1:p.Ser99= | |
| NM_001127207.1:c.600G>A | NP_001120679.1:p.Ser200= | |
| NM_014140.3:c.600G>A , LRG_108t1:c.600G>A | NP_054859.2:p.Ser200= | |
| XM_005246631.2:c.600G>A | XP_005246688.1:p.Ser200= | |
| XM_005246632.1:c.600G>A | XP_005246689.1:p.Ser200= | |
| XM_006712557.1:c.600G>A | XP_006712620.1:p.Ser200= | |
| XM_005246632.2:c.600G>A | XP_005246689.1:p.Ser200= | |
| XM_017004228.2:c.-317G>A | XP_016859717.1:n.-317G>A | |
| NM_001127207.2:c.600G>A | NP_001120679.1:p.Ser200= | |
| NM_014140.4:c.600G>A MANE Select | NP_054859.2:p.Ser200= |