Linked Data
dbSNP Id:
rs4551650
gnomAD v2:
1-235276289-C-T
gnomAD v3:
1-235112974-C-T
gnomAD v4:
1-235112974-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235112974C>T , CM000663.2:g.235112974C>T | GRCh38 |
| NC_000001.10:g.235276289C>T , CM000663.1:g.235276289C>T | GRCh37 |
| NC_000001.9:g.233342912C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366607.5:c.393+794G>A MANE Select | ENSP00000355566.4:n.393+794G>A | |
| ENST00000366607.4:c.393+794G>A | ENSP00000355566.4:n.393+794G>A | |
| ENST00000467767.5:n.293+794G>A | ||
| ENST00000473132.1:n.359+794G>A | ||
| NM_014765.2:c.393+794G>A | NP_055580.1:n.393+794G>A | |
| NM_014765.3:c.393+794G>A MANE Select | NP_055580.1:n.393+794G>A |