Linked Data
dbSNP Id:
rs805264
ExAC:
6:31623873 G / A
gnomAD v2:
6-31623873-G-A
gnomAD v3:
6-31656096-G-A
gnomAD v4:
6-31656096-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31656096G>A , CM000668.2:g.31656096G>A | GRCh38 |
| NC_000006.11:g.31623873G>A , CM000668.1:g.31623873G>A | GRCh37 |
| NC_000006.10:g.31731852G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375916.4:c.114+16G>A (APOM) MANE Select | ENSP00000365081.3:n.114+16G>A | |
| ENST00000375916.3:c.114+16G>A (APOM) | ENSP00000365081.3:n.114+16G>A | |
| ENST00000375918.6:c.-102-376G>A (APOM) | ENSP00000365083.2:n.-102-376G>A | |
| ENST00000375920.8:c.-102-376G>A (APOM) | ENSP00000365085.4:n.-102-376G>A | |
| NM_001256169.1:c.-102-376G>A (APOM) | NP_001243098.1:n.-102-376G>A | |
| NM_019101.2:c.114+16G>A (APOM) | NP_061974.2:n.114+16G>A | |
| NR_045828.1:n.143-376G>A (APOM) | ||
| XM_006715150.2:c.11+16G>A (APOM) | XP_006715213.1:n.11+16G>A | |
| XM_011514895.1:c.-14+4225C>T (BAG6) | XP_011513197.1:n.-14+4225C>T | |
| XM_006715150.3:c.11+16G>A (APOM) | XP_006715213.1:n.11+16G>A | |
| XM_017011279.2:c.-14+4225C>T (BAG6) | XP_016866768.1:n.-14+4225C>T | |
| XM_024446545.1:c.-14+1668C>T (BAG6) | XP_024302313.1:n.-14+1668C>T | |
| NM_019101.3:c.114+16G>A (APOM) MANE Select | NP_061974.2:n.114+16G>A | |
| NM_001256169.2:c.-102-376G>A (APOM) | NP_001243098.1:n.-102-376G>A | |
| NR_045828.2:n.149-376G>A (APOM) |