Linked Data
ClinVar Variation Id:
1755376
ClinVar RCV Id:
RCV002369344
dbSNP Id:
rs1175289727
gnomAD v2:
13-28498663-A-C
gnomAD v4:
13-27924526-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924526A>C , CM000675.2:g.27924526A>C | GRCh38 |
| NC_000013.10:g.28498663A>C , CM000675.1:g.28498663A>C | GRCh37 |
| NC_000013.9:g.27396663A>C | NCBI36 |
| NG_008183.1:g.9496A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.677A>C MANE Select | ENSP00000370421.4:p.Asp226Ala | |
| ENST00000381033.4:c.677A>C | ENSP00000370421.4:p.Asp226Ala | |
| NM_000209.3:c.677A>C | NP_000200.1:p.Asp226Ala | |
| NM_000209.4:c.677A>C MANE Select | NP_000200.1:p.Asp226Ala |