Linked Data
dbSNP Id:
rs747305207
ExAC:
12:76739838 C / T
gnomAD v2:
12-76739838-C-T
gnomAD v3:
12-76346058-C-T
gnomAD v4:
12-76346058-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346058C>T , CM000674.2:g.76346058C>T | GRCh38 |
| NC_000012.11:g.76739838C>T , CM000674.1:g.76739838C>T | GRCh37 |
| NC_000012.10:g.75263969C>T | NCBI36 |
| NG_016357.1:g.7385G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1927G>A MANE Select | ENSP00000497413.1:p.Val643Ile | |
| ENST00000393262.3:c.1927G>A | ENSP00000376946.3:p.Val643Ile | |
| NM_024685.3:c.1927G>A | NP_078961.3:p.Val643Ile | |
| NM_024685.4:c.1927G>A MANE Select | NP_078961.3:p.Val643Ile |