Linked Data
dbSNP Id:
rs11938826
gnomAD v2:
4-123772614-C-G
gnomAD v3:
4-122851459-C-G
gnomAD v4:
4-122851459-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122851459C>G , CM000666.2:g.122851459C>G | GRCh38 |
| NC_000004.11:g.123772614C>G , CM000666.1:g.123772614C>G | GRCh37 |
| NC_000004.10:g.123992064C>G | NCBI36 |
| NG_029067.1:g.29752C>G | |
| NG_029067.2:g.29752C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264498.9:c.577+24107C>G | ENSP00000264498.4:n.577+24107C>G | |
| ENST00000264498.8:c.577+24107C>G | ENSP00000264498.4:n.577+24107C>G | |
| ENST00000644866.2:c.178+24107C>G MANE Select | ENSP00000494222.1:n.178+24107C>G | |
| ENST00000264498.7:c.577+24107C>G | ENSP00000264498.3:n.577+24107C>G | |
| ENST00000608478.1:c.178+24107C>G | ENSP00000477134.1:n.178+24107C>G | |
| ENST00000614010.4:c.577+24107C>G | ENSP00000478620.1:n.577+24107C>G | |
| NM_002006.4:c.577+24107C>G | NP_001997.5:n.577+24107C>G | |
| NM_001361665.1:c.178+24107C>G | NP_001348594.1:n.178+24107C>G | |
| NM_002006.5:c.577+24107C>G | NP_001997.5:n.577+24107C>G | |
| NM_001361665.2:c.178+24107C>G MANE Select | NP_001348594.1:n.178+24107C>G | |
| NM_002006.6:c.577+24107C>G | NP_001997.5:n.577+24107C>G |