Linked Data
dbSNP Id:
rs1297879886
gnomAD v2:
4-70723781-A-T
gnomAD v3:
4-69858063-A-T
gnomAD v4:
4-69858063-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.69858063A>T , CM000666.2:g.69858063A>T | GRCh38 |
| NC_000004.11:g.70723781A>T , CM000666.1:g.70723781A>T | GRCh37 |
| NC_000004.10:g.70758370A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226444.4:c.-9-410T>A MANE Select | ENSP00000226444.3:n.-9-410T>A | |
| ENST00000226444.3:c.-9-410T>A | ENSP00000226444.3:n.-9-410T>A | |
| ENST00000504002.1:n.98-410T>A | ||
| NM_005420.2:c.-9-410T>A | NP_005411.1:n.-9-410T>A | |
| XM_011532209.1:c.-9-410T>A | XP_011530511.1:n.-9-410T>A | |
| XM_011532210.1:c.-9-410T>A | XP_011530512.1:n.-9-410T>A | |
| XM_011532210.2:c.-9-410T>A | XP_011530512.1:n.-9-410T>A | |
| NM_005420.3:c.-9-410T>A MANE Select | NP_005411.1:n.-9-410T>A |