Linked Data
dbSNP Id:
rs750522968
ExAC:
6:31625012 C / T
gnomAD v2:
6-31625012-C-T
gnomAD v4:
6-31657235-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31657235C>T , CM000668.2:g.31657235C>T | GRCh38 |
| NC_000006.11:g.31625012C>T , CM000668.1:g.31625012C>T | GRCh37 |
| NC_000006.10:g.31732991C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375916.4:c.280C>T (APOM) MANE Select | ENSP00000365081.3:p.Leu94Phe | |
| ENST00000375916.3:c.280C>T (APOM) | ENSP00000365081.3:p.Leu94Phe | |
| ENST00000375918.6:c.64C>T (APOM) | ENSP00000365083.2:p.Leu22Phe | |
| ENST00000375920.8:c.64C>T (APOM) | ENSP00000365085.4:p.Leu22Phe | |
| NM_001256169.1:c.64C>T (APOM) | NP_001243098.1:p.Leu22Phe | |
| NM_019101.2:c.280C>T (APOM) | NP_061974.2:p.Leu94Phe | |
| NR_045828.1:n.315C>T (APOM) | ||
| XM_006715150.2:c.184C>T (APOM) | XP_006715213.1:p.Leu62Phe | |
| XM_011514895.1:c.-14+3086G>A (BAG6) | XP_011513197.1:n.-14+3086G>A | |
| XM_006715150.3:c.184C>T (APOM) | XP_006715213.1:p.Leu62Phe | |
| XM_017011279.2:c.-14+3086G>A (BAG6) | XP_016866768.1:n.-14+3086G>A | |
| XM_024446545.1:c.-14+529G>A (BAG6) | XP_024302313.1:n.-14+529G>A | |
| NM_019101.3:c.280C>T (APOM) MANE Select | NP_061974.2:p.Leu94Phe | |
| NM_001256169.2:c.64C>T (APOM) | NP_001243098.1:p.Leu22Phe | |
| NR_045828.2:n.321C>T (APOM) |