Linked Data
dbSNP Id:
rs371954730
gnomAD v2:
12-21327439-C-G
gnomAD v3:
12-21174505-C-G
gnomAD v4:
12-21174505-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174505C>G , CM000674.2:g.21174505C>G | GRCh38 |
| NC_000012.11:g.21327439C>G , CM000674.1:g.21327439C>G | GRCh37 |
| NC_000012.10:g.21218706C>G | NCBI36 |
| NG_011745.1:g.48312C>G , LRG_1022:g.48312C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.227-72C>G MANE Select | ENSP00000256958.2:n.227-72C>G | |
| ENST00000256958.2:c.227-72C>G | ENSP00000256958.2:n.227-72C>G | |
| ENST00000543498.5:c.426-2271C>G | ||
| NM_006446.4:c.227-72C>G , LRG_1022t1:c.227-72C>G | NP_006437.3:n.227-72C>G | |
| NM_006446.5:c.227-72C>G MANE Select | NP_006437.3:n.227-72C>G |