Linked Data
dbSNP Id:
rs912792080
gnomAD v2:
2-46577716-C-G
gnomAD v3:
2-46350577-C-G
gnomAD v4:
2-46350577-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46350577C>G , CM000664.2:g.46350577C>G | GRCh38 |
| NC_000002.11:g.46577716C>G , CM000664.1:g.46577716C>G | GRCh37 |
| NC_000002.10:g.46431220C>G | NCBI36 |
| NG_016000.1:g.58176C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263734.5:c.217+3514C>G MANE Select | ENSP00000263734.3:n.217+3514C>G | |
| ENST00000263734.4:c.217+3514C>G | ENSP00000263734.3:n.217+3514C>G | |
| ENST00000449347.5:c.217+3514C>G | ENSP00000406137.1:n.217+3514C>G | |
| ENST00000475822.1:n.408+3514C>G | ||
| NM_001430.4:c.217+3514C>G | NP_001421.2:n.217+3514C>G | |
| XM_011532698.1:c.256+3514C>G | XP_011531000.1:n.256+3514C>G | |
| XM_011532698.2:c.256+3514C>G | XP_011531000.1:n.256+3514C>G | |
| NM_001430.5:c.217+3514C>G MANE Select | NP_001421.2:n.217+3514C>G |