Linked Data
ClinVar Variation Id:
1713803
ClinVar RCV Id:
RCV002295588
dbSNP Id:
rs1647740253
gnomAD v3:
1-179882570-C-A
gnomAD v4:
1-179882570-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179882570C>A , CM000663.2:g.179882570C>A | GRCh38 |
| NC_000001.10:g.179851705C>A , CM000663.1:g.179851705C>A | GRCh37 |
| NC_000001.9:g.178118328C>A | NCBI36 |
| NG_042316.1:g.5529C>A | |
| NG_053185.1:g.1045G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606911.7:c.68C>A MANE Select | ENSP00000476687.1:p.Ala23Asp | |
| ENST00000271583.7:c.68C>A | ENSP00000271583.3:p.Ala23Asp | |
| ENST00000528443.6:c.68C>A | ENSP00000435365.2:p.Ala23Asp | |
| ENST00000606911.6:c.68C>A | ENSP00000476687.1:p.Ala23Asp | |
| NM_001267578.1:c.68C>A | NP_001254507.1:p.Ala23Asp | |
| NM_015602.3:c.68C>A | NP_056417.2:p.Ala23Asp | |
| XM_011509403.1:c.68C>A | XP_011507705.1:p.Ala23Asp | |
| XM_011509404.1:c.68C>A | XP_011507706.1:p.Ala23Asp | |
| XM_011509403.2:c.68C>A | XP_011507705.1:p.Ala23Asp | |
| XM_011509404.2:c.68C>A | XP_011507706.1:p.Ala23Asp | |
| NM_001267578.2:c.68C>A | NP_001254507.1:p.Ala23Asp | |
| NM_015602.4:c.68C>A MANE Select | NP_056417.2:p.Ala23Asp |