Linked Data
dbSNP Id:
rs111773727
ExAC:
12:76740081 A / T
gnomAD v2:
12-76740081-A-T
gnomAD v4:
12-76346301-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346301A>T , CM000674.2:g.76346301A>T | GRCh38 |
| NC_000012.11:g.76740081A>T , CM000674.1:g.76740081A>T | GRCh37 |
| NC_000012.10:g.75264212A>T | NCBI36 |
| NG_016357.1:g.7142T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1684T>A MANE Select | ENSP00000497413.1:p.Leu562Ile | |
| ENST00000393262.3:c.1684T>A | ENSP00000376946.3:p.Leu562Ile | |
| NM_024685.3:c.1684T>A | NP_078961.3:p.Leu562Ile | |
| NM_024685.4:c.1684T>A MANE Select | NP_078961.3:p.Leu562Ile |