Linked Data
ClinVar Variation Id:
1082
dbSNP Id:
rs118203967
gnomAD v3:
9-78304842-A-C
gnomAD v4:
9-78304842-A-C
PubMed:
PMID:17436247
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304842A>C , CM000671.2:g.78304842A>C | GRCh38 |
| NC_000009.11:g.80919758A>C , CM000671.1:g.80919758A>C | GRCh37 |
| NC_000009.10:g.80109578A>C | NCBI36 |
| NG_012165.1:g.12700A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376588.4:c.299A>C MANE Select | ENSP00000365773.3:p.Asp100Ala | |
| ENST00000347159.6:c.299A>C | ENSP00000317606.2:p.Asp100Ala | |
| ENST00000376588.3:c.299A>C | ENSP00000365773.3:p.Asp100Ala | |
| NM_021154.4:c.299A>C | NP_066977.1:p.Asp100Ala | |
| NM_058179.3:c.299A>C | NP_478059.1:p.Asp100Ala | |
| NM_058179.4:c.299A>C MANE Select | NP_478059.1:p.Asp100Ala | |
| NM_021154.5:c.299A>C | NP_066977.1:p.Asp100Ala |