Linked Data
dbSNP Id:
rs759730419
ExAC:
6:31625405 G / A
gnomAD v2:
6-31625405-G-A
gnomAD v3:
6-31657628-G-A
gnomAD v4:
6-31657628-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31657628G>A , CM000668.2:g.31657628G>A | GRCh38 |
| NC_000006.11:g.31625405G>A , CM000668.1:g.31625405G>A | GRCh37 |
| NC_000006.10:g.31733384G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375916.4:c.446G>A (APOM) MANE Select | ENSP00000365081.3:p.Arg149His | |
| ENST00000375916.3:c.446G>A (APOM) | ENSP00000365081.3:p.Arg149His | |
| ENST00000375918.6:c.230G>A (APOM) | ENSP00000365083.2:p.Arg77His | |
| ENST00000375920.8:c.230G>A (APOM) | ENSP00000365085.4:p.Arg77His | |
| NM_001256169.1:c.230G>A (APOM) | NP_001243098.1:p.Arg77His | |
| NM_019101.2:c.446G>A (APOM) | NP_061974.2:p.Arg149His | |
| NR_045828.1:n.481G>A (APOM) | ||
| XM_006715150.2:c.350G>A (APOM) | XP_006715213.1:p.Arg117His | |
| XM_011514895.1:c.-14+2693C>T (BAG6) | XP_011513197.1:n.-14+2693C>T | |
| XM_006715150.3:c.350G>A (APOM) | XP_006715213.1:p.Arg117His | |
| XM_017011279.2:c.-14+2693C>T (BAG6) | XP_016866768.1:n.-14+2693C>T | |
| XM_024446545.1:c.-14+136C>T (BAG6) | XP_024302313.1:n.-14+136C>T | |
| NM_019101.3:c.446G>A (APOM) MANE Select | NP_061974.2:p.Arg149His | |
| NM_001256169.2:c.230G>A (APOM) | NP_001243098.1:p.Arg77His | |
| NR_045828.2:n.487G>A (APOM) |