Linked Data
dbSNP Id:
rs370162933
gnomAD v2:
1-229567232-G-C
gnomAD v3:
1-229431485-G-C
gnomAD v4:
1-229431485-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431485G>C , CM000663.2:g.229431485G>C | GRCh38 |
| NC_000001.10:g.229567232G>C , CM000663.1:g.229567232G>C | GRCh37 |
| NC_000001.9:g.227633855G>C | NCBI36 |
| NG_006672.1:g.7612C>G , LRG_429:g.7612C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.*14C>G | ENSP00000355644.4:n.*14C>G | |
| ENST00000684723.1:c.*14C>G | ENSP00000508084.1:n.*14C>G | |
| ENST00000366683.3:c.*14C>G | ENSP00000355644.3:n.*14C>G | |
| ENST00000366684.7:c.*14C>G MANE Select | ENSP00000355645.3:n.*14C>G | |
| NM_001100.3:c.*14C>G , LRG_429t1:c.*14C>G | NP_001091.1:n.*14C>G | |
| NM_001100.4:c.*14C>G MANE Select | NP_001091.1:n.*14C>G |