Linked Data
dbSNP Id:
rs1314114035
gnomAD v2:
9-96716306-G-A
gnomAD v3:
9-93954024-G-A
gnomAD v4:
9-93954024-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.93954024G>A , CM000671.2:g.93954024G>A | GRCh38 |
| NC_000009.11:g.96716306G>A , CM000671.1:g.96716306G>A | GRCh37 |
| NC_000009.10:g.95756127G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253968.11:c.224-837C>T MANE Select | ENSP00000253968.5:n.224-837C>T | |
| ENST00000253968.10:c.224-837C>T | ENSP00000253968.5:n.224-837C>T | |
| NM_021570.3:c.224-837C>T | NP_067545.3:n.224-837C>T | |
| NM_021570.4:c.224-837C>T MANE Select | NP_067545.3:n.224-837C>T |