Linked Data
dbSNP Id:
rs199678034
gnomAD v2:
2-69553299-G-C
gnomAD v3:
2-69326167-G-C
gnomAD v4:
2-69326167-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69326167G>C , CM000664.2:g.69326167G>C | GRCh38 |
| NC_000002.11:g.69553299G>C , CM000664.1:g.69553299G>C | GRCh37 |
| NC_000002.10:g.69406803G>C | NCBI36 |
| NG_029542.1:g.66084C>G , LRG_787:g.66084C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357308.9:c.*22C>G MANE Select | ENSP00000349860.4:n.*22C>G | |
| ENST00000674438.1:c.*22C>G | ENSP00000501469.1:n.*22C>G | |
| ENST00000674507.1:c.*22C>G | ENSP00000501332.1:n.*22C>G | |
| ENST00000357308.8:c.*22C>G | ENSP00000349860.4:n.*22C>G | |
| ENST00000361060.5:c.*22C>G | ENSP00000354347.4:n.*22C>G | |
| NM_001244710.1:c.*22C>G , LRG_787t1:c.*22C>G | NP_001231639.1:n.*22C>G | |
| NM_002056.3:c.*22C>G | NP_002047.2:n.*22C>G | |
| XM_017003801.1:c.*22C>G | XP_016859290.1:n.*22C>G | |
| XM_017003802.2:c.*22C>G | XP_016859291.1:n.*22C>G | |
| NM_001244710.2:c.*22C>G MANE Select | NP_001231639.1:n.*22C>G | |
| NM_002056.4:c.*22C>G | NP_002047.2:n.*22C>G |