Linked Data
dbSNP Id:
rs1333334270
gnomAD v2:
12-91505271-T-C
gnomAD v3:
12-91111494-T-C
gnomAD v4:
12-91111494-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91111494T>C , CM000674.2:g.91111494T>C | GRCh38 |
| NC_000012.11:g.91505271T>C , CM000674.1:g.91505271T>C | GRCh37 |
| NC_000012.10:g.90029402T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.-118A>G MANE Select | ENSP00000266718.4:n.-118A>G | |
| ENST00000266718.4:c.-118A>G | ENSP00000266718.4:n.-118A>G | |
| NM_002345.3:c.-118A>G | NP_002336.1:n.-118A>G | |
| NM_002345.4:c.-118A>G MANE Select | NP_002336.1:n.-118A>G |