Linked Data
dbSNP Id:
rs4936894
gnomAD v2:
11-124017493-G-A
gnomAD v3:
11-124146786-G-A
gnomAD v4:
11-124146786-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124146786G>A , CM000673.2:g.124146786G>A | GRCh38 |
| NC_000011.9:g.124017493G>A , CM000673.1:g.124017493G>A | GRCh37 |
| NC_000011.8:g.123522703G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456829.7:c.*841G>A MANE Select | ENSP00000407726.2:n.*841G>A | |
| ENST00000392748.5:c.*841G>A | ENSP00000376504.1:n.*841G>A | |
| ENST00000456829.6:c.*841G>A | ENSP00000407726.2:n.*841G>A | |
| NM_001130142.1:c.*841G>A | NP_001123614.1:n.*841G>A | |
| NM_014622.4:c.*841G>A | NP_055437.2:n.*841G>A | |
| XM_011542828.1:c.*841G>A | XP_011541130.1:n.*841G>A | |
| XM_011542828.2:c.*841G>A | XP_011541130.1:n.*841G>A | |
| NM_001130142.2:c.*841G>A MANE Select | NP_001123614.1:n.*841G>A | |
| NM_014622.5:c.*841G>A | NP_055437.2:n.*841G>A |