Linked Data
ClinVar Variation Id:
8069
ClinVar RCV Id:
RCV000008535
dbSNP Id:
rs121909252
PubMed:
PMID:10866301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110719667C>A , CM000675.2:g.110719667C>A | GRCh38 |
| NC_000013.10:g.111372014C>A , CM000675.1:g.111372014C>A | GRCh37 |
| NC_000013.9:g.110170015C>A | NCBI36 |
| NG_012197.1:g.11932C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375775.4:c.368C>A | ENSP00000364930.3:p.Ala123Asp | |
| ENST00000333219.9:c.575C>A MANE Select | ENSP00000328436.8:p.Ala192Asp | |
| ENST00000333219.8:c.575C>A | ENSP00000328436.7:p.Ala192Asp | |
| ENST00000338450.7:c.443C>A | ENSP00000345202.7:p.Ala148Asp | |
| ENST00000375774.3:c.1004C>A | ENSP00000364929.3:p.Ala335Asp | |
| ENST00000375775.3:c.368C>A | ENSP00000364930.3:p.Ala123Asp | |
| NM_001267728.1:c.524C>A | NP_001254657.1:p.Ala175Asp | |
| NM_005537.5:c.1004C>A | NP_005528.4:p.Ala335Asp | |
| NM_198217.2:c.443C>A | NP_937860.1:p.Ala148Asp | |
| NM_198218.2:c.368C>A | NP_937861.1:p.Ala123Asp | |
| NM_198219.2:c.575C>A | NP_937862.1:p.Ala192Asp | |
| NM_198219.3:c.575C>A MANE Select | NP_937862.1:p.Ala192Asp | |
| NM_198217.3:c.443C>A | NP_937860.1:p.Ala148Asp | |
| NM_198218.3:c.368C>A | NP_937861.1:p.Ala123Asp |