Linked Data
ClinVar Variation Id:
12924
dbSNP Id:
rs121918614
gnomAD v3:
1-160135470-G-A
gnomAD v4:
1-160135470-G-A
PubMed:
PMID:15159495
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160135470G>A , CM000663.2:g.160135470G>A | GRCh38 |
| NC_000001.10:g.160105260G>A , CM000663.1:g.160105260G>A | GRCh37 |
| NC_000001.9:g.158371884G>A | NCBI36 |
| NG_008014.1:g.24713G>A , LRG_6:g.24713G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361216.8:c.2152G>A MANE Select | ENSP00000354490.3:p.Asp718Asn | |
| ENST00000361216.7:c.2152G>A | ENSP00000354490.3:p.Asp718Asn | |
| ENST00000392233.7:c.2152G>A | ENSP00000376066.3:p.Asp718Asn | |
| ENST00000447527.1:c.1284G>A | ||
| ENST00000472488.5:n.2255G>A | ||
| NM_000702.3:c.2152G>A | NP_000693.1:p.Asp718Asn | |
| NM_000702.4:c.2152G>A MANE Select | NP_000693.1:p.Asp718Asn |