Linked Data
ClinVar Variation Id:
305836
dbSNP Id:
rs76690064
gnomAD v2:
11-68682305-C-A
gnomAD v3:
11-68914837-C-A
gnomAD v4:
11-68914837-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914837C>A , CM000673.2:g.68914837C>A | GRCh38 |
| NC_000011.9:g.68682305C>A , CM000673.1:g.68682305C>A | GRCh37 |
| NC_000011.8:g.68438881C>A | NCBI36 |
| NG_007976.1:g.15987C>A , LRG_250:g.15987C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.726C>A MANE Select | ENSP00000255078.4:p.Ala242= | |
| ENST00000539224.2:c.855C>A | ||
| ENST00000674955.1:c.726C>A | ENSP00000502463.1:p.Ala242= | |
| ENST00000675118.1:c.73C>A | ||
| ENST00000675119.1:c.15C>A | ENSP00000501861.1:p.Ala5= | |
| ENST00000675305.1:c.15C>A | ENSP00000502365.1:p.Ala5= | |
| ENST00000675464.1:c.15C>A | ENSP00000502650.1:p.Ala5= | |
| ENST00000675615.1:c.726C>A | ENSP00000502413.1:p.Ala242= | |
| ENST00000675683.1:c.113C>A | ||
| ENST00000676173.1:n.770C>A | ||
| ENST00000676228.1:c.*49C>A | ENSP00000502375.1:n.*49C>A | |
| ENST00000676239.1:n.40C>A | ||
| ENST00000255078.7:c.726C>A | ENSP00000255078.3:p.Ala242= | |
| ENST00000539224.1:c.*49C>A | ENSP00000440465.1:n.*49C>A | |
| NM_002180.2:c.726C>A , LRG_250t1:c.726C>A | NP_002171.2:p.Ala242= | |
| XM_005273974.2:c.-286C>A | XP_005274031.1:n.-286C>A | |
| XM_005273976.1:c.726C>A | XP_005274033.1:p.Ala242= | |
| XR_247198.1:n.828C>A | ||
| XR_949903.1:n.828C>A | ||
| XM_005273976.2:c.726C>A | XP_005274033.1:p.Ala242= | |
| XM_017017669.2:c.-286C>A | XP_016873158.1:n.-286C>A | |
| XM_017017670.2:c.-286C>A | XP_016873159.1:n.-286C>A | |
| XM_017017671.2:c.726C>A | XP_016873160.1:p.Ala242= | |
| XR_949903.3:n.824C>A | ||
| NM_002180.3:c.726C>A MANE Select | NP_002171.2:p.Ala242= |