Linked Data
dbSNP Id:
rs756423887
ExAC:
5:1213558 A / T
gnomAD v2:
5-1213558-A-T
gnomAD v4:
5-1213443-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213443A>T , CM000667.2:g.1213443A>T | GRCh38 |
| NC_000005.9:g.1213558A>T , CM000667.1:g.1213558A>T | GRCh37 |
| NC_000005.8:g.1266558A>T | NCBI36 |
| NG_008282.1:g.16849A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-20A>T MANE Select | ENSP00000305302.10:n.664-20A>T | |
| ENST00000304460.10:c.664-20A>T | ENSP00000305302.10:n.664-20A>T | |
| ENST00000515652.5:c.572-20A>T | ENSP00000425701.1:n.572-20A>T | |
| NM_001003841.2:c.664-20A>T | NP_001003841.1:n.664-20A>T | |
| NM_001003841.3:c.664-20A>T MANE Select | NP_001003841.1:n.664-20A>T |