Linked Data
dbSNP Id:
rs1047793892
gnomAD v2:
9-96716373-G-T
gnomAD v3:
9-93954091-G-T
gnomAD v4:
9-93954091-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.93954091G>T , CM000671.2:g.93954091G>T | GRCh38 |
| NC_000009.11:g.96716373G>T , CM000671.1:g.96716373G>T | GRCh37 |
| NC_000009.10:g.95756194G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253968.11:c.223+833C>A MANE Select | ENSP00000253968.5:n.223+833C>A | |
| ENST00000253968.10:c.223+833C>A | ENSP00000253968.5:n.223+833C>A | |
| NM_021570.3:c.223+833C>A | NP_067545.3:n.223+833C>A | |
| NM_021570.4:c.223+833C>A MANE Select | NP_067545.3:n.223+833C>A |