Linked Data
ClinVar Variation Id:
127141
dbSNP Id:
rs2266788
gnomAD v2:
11-116660686-G-A
gnomAD v3:
11-116789970-G-A
gnomAD v4:
11-116789970-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116789970G>A , CM000673.2:g.116789970G>A | GRCh38 |
| NC_000011.9:g.116660686G>A , CM000673.1:g.116660686G>A | GRCh37 |
| NC_000011.8:g.116165896G>A | NCBI36 |
| NG_015894.1:g.7451C>T | |
| NG_015894.2:g.7451C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227665.9:c.*158C>T MANE Select | ENSP00000227665.4:n.*158C>T | |
| ENST00000433069.2:c.*158C>T | ENSP00000399701.2:n.*158C>T | |
| ENST00000227665.8:c.*158C>T | ENSP00000227665.4:n.*158C>T | |
| ENST00000542499.5:c.*158C>T | ENSP00000445002.1:n.*158C>T | |
| NM_001166598.1:c.*158C>T | NP_001160070.1:n.*158C>T | |
| NM_052968.4:c.*158C>T | NP_443200.2:n.*158C>T | |
| NM_001166598.2:c.*158C>T | NP_001160070.1:n.*158C>T | |
| NM_001371904.1:c.*158C>T MANE Select | NP_001358833.1:n.*158C>T | |
| NM_052968.5:c.*158C>T | NP_443200.2:n.*158C>T |