Linked Data
ClinVar Variation Id:
240841
dbSNP Id:
rs11557649
ExAC:
5:10258512 G / A
gnomAD v2:
5-10258512-G-A
gnomAD v3:
5-10258400-G-A
gnomAD v4:
5-10258400-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10258400G>A , CM000667.2:g.10258400G>A | GRCh38 |
| NC_000005.9:g.10258512G>A , CM000667.1:g.10258512G>A | GRCh37 |
| NC_000005.8:g.10311512G>A | NCBI36 |
| NG_012160.1:g.13231G>A , LRG_361:g.13231G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.738G>A MANE Select | ENSP00000280326.4:p.Ala246= | |
| ENST00000280326.8:c.738G>A | ENSP00000280326.4:p.Ala246= | |
| ENST00000423695.6:n.335G>A | ||
| ENST00000503026.5:c.675G>A | ENSP00000423318.1:p.Ala225= | |
| ENST00000503454.5:c.627G>A | ||
| ENST00000506600.1:c.459G>A | ENSP00000423052.1:p.Ala153= | |
| ENST00000509846.1:n.15G>A | ||
| ENST00000512975.5:c.*178G>A | ENSP00000425751.1:n.*178G>A | |
| ENST00000514674.5:n.433G>A | ||
| ENST00000515390.5:c.573G>A | ENSP00000426923.1:p.Ala191= | |
| ENST00000515676.5:c.624G>A | ENSP00000427297.1:p.Ala208= | |
| NM_001306153.1:c.675G>A | NP_001293082.1:p.Ala225= | |
| NM_001306154.1:c.573G>A | NP_001293083.1:p.Ala191= | |
| NM_001306155.1:c.459G>A | NP_001293084.1:p.Ala153= | |
| NM_001306156.1:c.624G>A | NP_001293085.1:p.Ala208= | |
| NM_012073.3:c.738G>A , LRG_361t1:c.738G>A | NP_036205.1:p.Ala246= | |
| NM_012073.4:c.738G>A | NP_036205.1:p.Ala246= | |
| NM_012073.5:c.738G>A MANE Select | NP_036205.1:p.Ala246= | |
| NM_001306154.2:c.573G>A | NP_001293083.1:p.Ala191= | |
| NM_001306155.2:c.459G>A | NP_001293084.1:p.Ala153= | |
| NM_001306156.2:c.624G>A | NP_001293085.1:p.Ala208= |