Linked Data
dbSNP Id:
rs780491975
ExAC:
4:68619741 C / T
gnomAD v2:
4-68619741-C-T
gnomAD v4:
4-67754023-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754023C>T , CM000666.2:g.67754023C>T | GRCh38 |
| NC_000004.11:g.68619741C>T , CM000666.1:g.68619741C>T | GRCh37 |
| NC_000004.10:g.68302336C>T | NCBI36 |
| NG_009293.1:g.7064G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.313G>A MANE Select | ENSP00000226413.5:p.Val105Ile | |
| ENST00000226413.4:c.313G>A | ENSP00000226413.4:p.Val105Ile | |
| ENST00000420975.2:c.313G>A | ENSP00000397561.2:p.Val105Ile | |
| NM_000406.2:c.313G>A | NP_000397.1:p.Val105Ile | |
| NM_001012763.1:c.313G>A | NP_001012781.1:p.Val105Ile | |
| NM_000406.3:c.313G>A MANE Select | NP_000397.1:p.Val105Ile | |
| NM_001012763.2:c.313G>A | NP_001012781.1:p.Val105Ile |