Linked Data
ClinVar Variation Id:
846744
ClinVar RCV Id:
RCV001050132
dbSNP Id:
rs771361211
ExAC:
11:45827371 A / G
gnomAD v2:
11-45827371-A-G
gnomAD v3:
11-45805820-A-G
gnomAD v4:
11-45805820-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45805820A>G , CM000673.2:g.45805820A>G | GRCh38 |
| NC_000011.9:g.45827371A>G , CM000673.1:g.45827371A>G | GRCh37 |
| NC_000011.8:g.45783947A>G | NCBI36 |
| NG_009875.1:g.6749A>G , LRG_107:g.6749A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.-21A>G | ENSP00000432145.2:n.-21A>G | |
| ENST00000314134.4:c.19A>G MANE Select | ENSP00000313318.3:p.Lys7Glu | |
| ENST00000314134.3:c.19A>G | ENSP00000313318.3:p.Lys7Glu | |
| ENST00000442528.2:c.-21A>G | ENSP00000412408.2:n.-21A>G | |
| ENST00000526817.1:c.-21A>G | ENSP00000432145.1:n.-21A>G | |
| ENST00000530471.1:c.-21A>G | ENSP00000432669.1:n.-21A>G | |
| NM_001145265.1:c.-21A>G | NP_001138737.1:n.-21A>G | |
| NM_001145266.1:c.-21A>G | NP_001138738.1:n.-21A>G | |
| NM_018389.4:c.19A>G , LRG_107t1:c.19A>G | NP_060859.4:p.Lys7Glu | |
| XM_011520203.1:c.19A>G | XP_011518505.1:p.Lys7Glu | |
| XM_011520203.3:c.19A>G | XP_011518505.1:p.Lys7Glu | |
| NM_001145265.2:c.-21A>G | NP_001138737.1:n.-21A>G | |
| NM_018389.5:c.19A>G MANE Select | NP_060859.4:p.Lys7Glu |