Linked Data
dbSNP Id:
rs1271130582
gnomAD v2:
6-31623766-C-T
gnomAD v4:
6-31655989-C-T
COSMIC:
COSM1283459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31655989C>T , CM000668.2:g.31655989C>T | GRCh38 |
| NC_000006.11:g.31623766C>T , CM000668.1:g.31623766C>T | GRCh37 |
| NC_000006.10:g.31731745C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375916.4:c.23C>T (APOM) MANE Select | ENSP00000365081.3:p.Ala8Val | |
| ENST00000375916.3:c.23C>T (APOM) | ENSP00000365081.3:p.Ala8Val | |
| ENST00000375918.6:c.-102-483C>T (APOM) | ENSP00000365083.2:n.-102-483C>T | |
| ENST00000375920.8:c.-102-483C>T (APOM) | ENSP00000365085.4:n.-102-483C>T | |
| NM_001256169.1:c.-102-483C>T (APOM) | NP_001243098.1:n.-102-483C>T | |
| NM_019101.2:c.23C>T (APOM) | NP_061974.2:p.Ala8Val | |
| NR_045828.1:n.143-483C>T (APOM) | ||
| XM_006715150.2:c.-81C>T (APOM) | XP_006715213.1:n.-81C>T | |
| XM_011514895.1:c.-13-4213G>A (BAG6) | XP_011513197.1:n.-13-4213G>A | |
| XM_006715150.3:c.-81C>T (APOM) | XP_006715213.1:n.-81C>T | |
| XM_017011279.2:c.-13-4213G>A (BAG6) | XP_016866768.1:n.-13-4213G>A | |
| XM_024446545.1:c.-14+1775G>A (BAG6) | XP_024302313.1:n.-14+1775G>A | |
| NM_019101.3:c.23C>T (APOM) MANE Select | NP_061974.2:p.Ala8Val | |
| NM_001256169.2:c.-102-483C>T (APOM) | NP_001243098.1:n.-102-483C>T | |
| NR_045828.2:n.149-483C>T (APOM) |