Linked Data
dbSNP Id:
rs779794687
ExAC:
6:31625447 C / T
gnomAD v2:
6-31625447-C-T
gnomAD v4:
6-31657670-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31657670C>T , CM000668.2:g.31657670C>T | GRCh38 |
| NC_000006.11:g.31625447C>T , CM000668.1:g.31625447C>T | GRCh37 |
| NC_000006.10:g.31733426C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375916.4:c.488C>T (APOM) MANE Select | ENSP00000365081.3:p.Ser163Phe | |
| ENST00000375916.3:c.488C>T (APOM) | ENSP00000365081.3:p.Ser163Phe | |
| ENST00000375918.6:c.272C>T (APOM) | ENSP00000365083.2:p.Ser91Phe | |
| ENST00000375920.8:c.272C>T (APOM) | ENSP00000365085.4:p.Ser91Phe | |
| NM_001256169.1:c.272C>T (APOM) | NP_001243098.1:p.Ser91Phe | |
| NM_019101.2:c.488C>T (APOM) | NP_061974.2:p.Ser163Phe | |
| NR_045828.1:n.523C>T (APOM) | ||
| XM_006715150.2:c.392C>T (APOM) | XP_006715213.1:p.Ser131Phe | |
| XM_011514895.1:c.-14+2651G>A (BAG6) | XP_011513197.1:n.-14+2651G>A | |
| XM_006715150.3:c.392C>T (APOM) | XP_006715213.1:p.Ser131Phe | |
| XM_017011279.2:c.-14+2651G>A (BAG6) | XP_016866768.1:n.-14+2651G>A | |
| XM_024446545.1:c.-14+94G>A (BAG6) | XP_024302313.1:n.-14+94G>A | |
| NM_019101.3:c.488C>T (APOM) MANE Select | NP_061974.2:p.Ser163Phe | |
| NM_001256169.2:c.272C>T (APOM) | NP_001243098.1:p.Ser91Phe | |
| NR_045828.2:n.529C>T (APOM) |