Linked Data
ClinVar Variation Id:
305843
dbSNP Id:
rs745534850
ExAC:
11:68696784 G / A
gnomAD v2:
11-68696784-G-A
gnomAD v3:
11-68929316-G-A
gnomAD v4:
11-68929316-G-A
COSMIC:
COSM5051101
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68929316G>A , CM000673.2:g.68929316G>A | GRCh38 |
| NC_000011.9:g.68696784G>A , CM000673.1:g.68696784G>A | GRCh37 |
| NC_000011.8:g.68453360G>A | NCBI36 |
| NG_007976.1:g.30466G>A , LRG_250:g.30466G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.1194G>A MANE Select | ENSP00000255078.4:p.Ala398= | |
| ENST00000674698.1:n.134G>A | ||
| ENST00000674745.1:c.359G>A | ENSP00000502738.1:n.359G>A | |
| ENST00000674775.1:n.394G>A | ||
| ENST00000674955.1:c.1194G>A | ENSP00000502463.1:p.Ala398= | |
| ENST00000675118.1:c.682G>A | ||
| ENST00000675305.1:c.514G>A | ENSP00000502365.1:n.514G>A | |
| ENST00000675310.1:n.134G>A | ||
| ENST00000675493.1:n.355G>A | ||
| ENST00000675615.1:c.1194G>A | ENSP00000502413.1:p.Ala398= | |
| ENST00000675648.1:n.569G>A | ||
| ENST00000675684.1:c.321G>A | ENSP00000502192.1:p.Ala107= | |
| ENST00000675755.1:n.134G>A | ||
| ENST00000676083.1:n.134G>A | ||
| ENST00000676173.1:n.1238G>A | ||
| ENST00000676228.1:c.*517G>A | ENSP00000502375.1:n.*517G>A | |
| ENST00000676240.1:n.134G>A | ||
| ENST00000676400.1:n.134G>A | ||
| ENST00000255078.7:c.1194G>A | ENSP00000255078.3:p.Ala398= | |
| ENST00000568742.1:n.304G>A | ||
| NM_002180.2:c.1194G>A , LRG_250t1:c.1194G>A | NP_002171.2:p.Ala398= | |
| XM_005273974.2:c.183G>A | XP_005274031.1:p.Ala61= | |
| XM_005273976.1:c.1194G>A | XP_005274033.1:p.Ala398= | |
| XR_247198.1:n.1296G>A | ||
| XR_949903.1:n.1296G>A | ||
| XM_005273976.2:c.1194G>A | XP_005274033.1:p.Ala398= | |
| XM_017017669.2:c.183G>A | XP_016873158.1:p.Ala61= | |
| XM_017017670.2:c.183G>A | XP_016873159.1:p.Ala61= | |
| XM_017017671.2:c.1194G>A | XP_016873160.1:p.Ala398= | |
| XR_949903.3:n.1292G>A | ||
| NM_002180.3:c.1194G>A MANE Select | NP_002171.2:p.Ala398= |