Linked Data
ClinVar Variation Id:
155874
ClinVar RCV Id:
RCV000143991
dbSNP Id:
rs3734805
gnomAD v2:
6-151939350-A-C
gnomAD v3:
6-151618215-A-C
gnomAD v4:
6-151618215-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151618215A>C , CM000668.2:g.151618215A>C | GRCh38 |
| NC_000006.11:g.151939350A>C , CM000668.1:g.151939350A>C | GRCh37 |
| NC_000006.10:g.151981043A>C | NCBI36 |
| NG_021198.1:g.129176A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000239374.8:c.*68A>C MANE Select | ENSP00000239374.6:n.*68A>C | |
| ENST00000239374.7:c.*68A>C | ENSP00000239374.6:n.*68A>C | |
| NM_025059.3:c.*68A>C | NP_079335.2:n.*68A>C | |
| XM_011536147.1:c.*68A>C | XP_011534449.1:n.*68A>C | |
| XM_011536148.1:c.*68A>C | XP_011534450.1:n.*68A>C | |
| XM_011536147.2:c.*68A>C | XP_011534449.1:n.*68A>C | |
| XM_011536148.2:c.*68A>C | XP_011534450.1:n.*68A>C | |
| NM_025059.4:c.*68A>C MANE Select | NP_079335.2:n.*68A>C |