Linked Data
dbSNP Id:
rs34065661
ExAC:
16:56995935 C / A
gnomAD v2:
16-56995935-C-A
gnomAD v3:
16-56962023-C-A
gnomAD v4:
16-56962023-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56962023C>A , CM000678.2:g.56962023C>A | GRCh38 |
| NC_000016.9:g.56995935C>A , CM000678.1:g.56995935C>A | GRCh37 |
| NC_000016.8:g.55553436C>A | NCBI36 |
| NG_008952.1:g.5101C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000200676.8:c.44C>A MANE Select | ENSP00000200676.3:p.Ala15Asp | |
| ENST00000200676.7:c.44C>A | ENSP00000200676.3:p.Ala15Asp | |
| ENST00000379780.6:c.44C>A | ENSP00000369106.2:p.Ala15Asp | |
| ENST00000569082.1:n.42C>A | ||
| NM_000078.2:c.44C>A | NP_000069.2:p.Ala15Asp | |
| NM_001286085.1:c.44C>A | NP_001273014.1:p.Ala15Asp | |
| XM_006721124.2:c.44C>A | XP_006721187.1:p.Ala15Asp | |
| XM_006721124.3:c.44C>A | XP_006721187.1:p.Ala15Asp | |
| NM_000078.3:c.44C>A MANE Select | NP_000069.2:p.Ala15Asp | |
| NM_001286085.2:c.44C>A | NP_001273014.1:p.Ala15Asp |