Linked Data
dbSNP Id:
rs767380560
ExAC:
6:31625428 T / C
gnomAD v2:
6-31625428-T-C
gnomAD v3:
6-31657651-T-C
gnomAD v4:
6-31657651-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31657651T>C , CM000668.2:g.31657651T>C | GRCh38 |
| NC_000006.11:g.31625428T>C , CM000668.1:g.31625428T>C | GRCh37 |
| NC_000006.10:g.31733407T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375916.4:c.469T>C (APOM) MANE Select | ENSP00000365081.3:p.Cys157Arg | |
| ENST00000375916.3:c.469T>C (APOM) | ENSP00000365081.3:p.Cys157Arg | |
| ENST00000375918.6:c.253T>C (APOM) | ENSP00000365083.2:p.Cys85Arg | |
| ENST00000375920.8:c.253T>C (APOM) | ENSP00000365085.4:p.Cys85Arg | |
| NM_001256169.1:c.253T>C (APOM) | NP_001243098.1:p.Cys85Arg | |
| NM_019101.2:c.469T>C (APOM) | NP_061974.2:p.Cys157Arg | |
| NR_045828.1:n.504T>C (APOM) | ||
| XM_006715150.2:c.373T>C (APOM) | XP_006715213.1:p.Cys125Arg | |
| XM_011514895.1:c.-14+2670A>G (BAG6) | XP_011513197.1:n.-14+2670A>G | |
| XM_006715150.3:c.373T>C (APOM) | XP_006715213.1:p.Cys125Arg | |
| XM_017011279.2:c.-14+2670A>G (BAG6) | XP_016866768.1:n.-14+2670A>G | |
| XM_024446545.1:c.-14+113A>G (BAG6) | XP_024302313.1:n.-14+113A>G | |
| NM_019101.3:c.469T>C (APOM) MANE Select | NP_061974.2:p.Cys157Arg | |
| NM_001256169.2:c.253T>C (APOM) | NP_001243098.1:p.Cys85Arg | |
| NR_045828.2:n.510T>C (APOM) |