Linked Data
dbSNP Id:
rs753280583
ExAC:
6:31625451 G / A
gnomAD v2:
6-31625451-G-A
gnomAD v3:
6-31657674-G-A
gnomAD v4:
6-31657674-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31657674G>A , CM000668.2:g.31657674G>A | GRCh38 |
| NC_000006.11:g.31625451G>A , CM000668.1:g.31625451G>A | GRCh37 |
| NC_000006.10:g.31733430G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375916.4:c.492G>A (APOM) MANE Select | ENSP00000365081.3:p.Leu164= | |
| ENST00000375916.3:c.492G>A (APOM) | ENSP00000365081.3:p.Leu164= | |
| ENST00000375918.6:c.276G>A (APOM) | ENSP00000365083.2:p.Leu92= | |
| ENST00000375920.8:c.276G>A (APOM) | ENSP00000365085.4:p.Leu92= | |
| NM_001256169.1:c.276G>A (APOM) | NP_001243098.1:p.Leu92= | |
| NM_019101.2:c.492G>A (APOM) | NP_061974.2:p.Leu164= | |
| NR_045828.1:n.527G>A (APOM) | ||
| XM_006715150.2:c.396G>A (APOM) | XP_006715213.1:p.Leu132= | |
| XM_011514895.1:c.-14+2647C>T (BAG6) | XP_011513197.1:n.-14+2647C>T | |
| XM_006715150.3:c.396G>A (APOM) | XP_006715213.1:p.Leu132= | |
| XM_017011279.2:c.-14+2647C>T (BAG6) | XP_016866768.1:n.-14+2647C>T | |
| XM_024446545.1:c.-14+90C>T (BAG6) | XP_024302313.1:n.-14+90C>T | |
| NM_019101.3:c.492G>A (APOM) MANE Select | NP_061974.2:p.Leu164= | |
| NM_001256169.2:c.276G>A (APOM) | NP_001243098.1:p.Leu92= | |
| NR_045828.2:n.533G>A (APOM) |