Linked Data
dbSNP Id:
rs781106513
ExAC:
1:45966069 A / T
gnomAD v2:
1-45966069-A-T
gnomAD v3:
1-45500397-A-T
gnomAD v4:
1-45500397-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500397A>T , CM000663.2:g.45500397A>T | GRCh38 |
| NC_000001.10:g.45966069A>T , CM000663.1:g.45966069A>T | GRCh37 |
| NC_000001.9:g.45738656A>T | NCBI36 |
| NG_013378.1:g.5214A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.65A>T MANE Select | ENSP00000383840.4:p.Glu22Val | |
| ENST00000401061.8:c.65A>T | ENSP00000383840.4:p.Glu22Val | |
| ENST00000616135.1:c.-107A>T | ENSP00000478859.1:n.-107A>T | |
| NM_015506.2:c.65A>T | NP_056321.2:p.Glu22Val | |
| XM_005270724.3:c.65A>T | XP_005270781.1:p.Glu22Val | |
| XM_011541204.1:c.-158A>T | XP_011539506.1:n.-158A>T | |
| NM_001330540.1:c.-158A>T | NP_001317469.1:n.-158A>T | |
| XM_005270724.5:c.65A>T | XP_005270781.1:p.Glu22Val | |
| NM_015506.3:c.65A>T MANE Select | NP_056321.2:p.Glu22Val | |
| NM_001330540.2:c.-158A>T | NP_001317469.1:n.-158A>T |