Linked Data
dbSNP Id:
rs754885489
ExAC:
6:31625020 G / A
gnomAD v2:
6-31625020-G-A
gnomAD v3:
6-31657243-G-A
gnomAD v4:
6-31657243-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31657243G>A , CM000668.2:g.31657243G>A | GRCh38 |
| NC_000006.11:g.31625020G>A , CM000668.1:g.31625020G>A | GRCh37 |
| NC_000006.10:g.31732999G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375916.4:c.288G>A (APOM) MANE Select | ENSP00000365081.3:p.Val96= | |
| ENST00000375916.3:c.288G>A (APOM) | ENSP00000365081.3:p.Val96= | |
| ENST00000375918.6:c.72G>A (APOM) | ENSP00000365083.2:p.Val24= | |
| ENST00000375920.8:c.72G>A (APOM) | ENSP00000365085.4:p.Val24= | |
| NM_001256169.1:c.72G>A (APOM) | NP_001243098.1:p.Val24= | |
| NM_019101.2:c.288G>A (APOM) | NP_061974.2:p.Val96= | |
| NR_045828.1:n.323G>A (APOM) | ||
| XM_006715150.2:c.192G>A (APOM) | XP_006715213.1:p.Val64= | |
| XM_011514895.1:c.-14+3078C>T (BAG6) | XP_011513197.1:n.-14+3078C>T | |
| XM_006715150.3:c.192G>A (APOM) | XP_006715213.1:p.Val64= | |
| XM_017011279.2:c.-14+3078C>T (BAG6) | XP_016866768.1:n.-14+3078C>T | |
| XM_024446545.1:c.-14+521C>T (BAG6) | XP_024302313.1:n.-14+521C>T | |
| NM_019101.3:c.288G>A (APOM) MANE Select | NP_061974.2:p.Val96= | |
| NM_001256169.2:c.72G>A (APOM) | NP_001243098.1:p.Val24= | |
| NR_045828.2:n.329G>A (APOM) |