Linked Data
dbSNP Id:
rs77169818
ExAC:
18:74980601 A / T
gnomAD v2:
18-74980601-A-T
gnomAD v3:
18-77268645-A-T
gnomAD v4:
18-77268645-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77268645A>T , CM000680.2:g.77268645A>T | GRCh38 |
| NC_000018.9:g.74980601A>T , CM000680.1:g.74980601A>T | GRCh37 |
| NC_000018.8:g.73109589A>T | NCBI36 |
| NG_009223.1:g.23594A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299727.5:c.793A>T MANE Select | ENSP00000299727.3:p.Ile265Phe | |
| ENST00000299727.4:c.793A>T | ENSP00000299727.3:p.Ile265Phe | |
| NM_001480.3:c.793A>T | NP_001471.2:p.Ile265Phe | |
| NM_001480.4:c.793A>T MANE Select | NP_001471.2:p.Ile265Phe |