Linked Data
ClinVar Variation Id:
402267
dbSNP Id:
rs747656448
ExAC:
11:76924953 G / A
gnomAD v2:
11-76924953-G-A
gnomAD v3:
11-77213908-G-A
gnomAD v4:
11-77213908-G-A
COSMIC:
COSM5360883
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77213908G>A , CM000673.2:g.77213908G>A | GRCh38 |
| NC_000011.9:g.76924953G>A , CM000673.1:g.76924953G>A | GRCh37 |
| NC_000011.8:g.76602601G>A | NCBI36 |
| NG_009086.1:g.90644G>A | |
| NG_009086.2:g.90663G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6487G>A MANE Select | ENSP00000386331.3:p.Gly2163Ser | |
| ENST00000670577.1:c.4288G>A | ||
| ENST00000409619.6:c.6340G>A | ENSP00000386635.2:p.Gly2114Ser | |
| ENST00000409709.7:c.6487G>A | ENSP00000386331.3:p.Gly2163Ser | |
| ENST00000458169.2:c.3913G>A | ENSP00000417017.2:p.Gly1305Ser | |
| ENST00000458637.6:c.6367G>A | ENSP00000392185.2:p.Gly2123Ser | |
| ENST00000481328.7:n.5037G>A | ||
| ENST00000481532.1:n.550G>A | ||
| ENST00000605744.1:n.2001G>A | ||
| NM_000260.3:c.6487G>A | NP_000251.3:p.Gly2163Ser | |
| NM_001127180.1:c.6367G>A | NP_001120652.1:p.Gly2123Ser | |
| XM_005274012.2:c.6370G>A | XP_005274069.1:p.Gly2124Ser | |
| XM_006718561.2:c.6373G>A | XP_006718624.1:p.Gly2125Ser | |
| XR_949941.1:n.6781G>A | ||
| XM_017017780.1:c.6577G>A | XP_016873269.1:p.Gly2193Ser | |
| XM_017017784.1:c.6460G>A | XP_016873273.1:p.Gly2154Ser | |
| XM_017017788.1:c.6463G>A | XP_016873277.1:p.Gly2155Ser | |
| XR_001747885.1:n.6566G>A | ||
| XR_001747887.1:n.6552G>A | ||
| NM_000260.4:c.6487G>A MANE Select | NP_000251.3:p.Gly2163Ser | |
| NM_001127180.2:c.6367G>A | NP_001120652.1:p.Gly2123Ser | |
| NM_001369365.1:c.6340G>A | NP_001356294.1:p.Gly2114Ser |