Linked Data
dbSNP Id:
rs538044384
gnomAD v2:
6-31623930-G-T
gnomAD v3:
6-31656153-G-T
gnomAD v4:
6-31656153-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31656153G>T , CM000668.2:g.31656153G>T | GRCh38 |
| NC_000006.11:g.31623930G>T , CM000668.1:g.31623930G>T | GRCh37 |
| NC_000006.10:g.31731909G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375916.4:c.114+73G>T (APOM) MANE Select | ENSP00000365081.3:n.114+73G>T | |
| ENST00000375916.3:c.114+73G>T (APOM) | ENSP00000365081.3:n.114+73G>T | |
| ENST00000375918.6:c.-102-319G>T (APOM) | ENSP00000365083.2:n.-102-319G>T | |
| ENST00000375920.8:c.-102-319G>T (APOM) | ENSP00000365085.4:n.-102-319G>T | |
| NM_001256169.1:c.-102-319G>T (APOM) | NP_001243098.1:n.-102-319G>T | |
| NM_019101.2:c.114+73G>T (APOM) | NP_061974.2:n.114+73G>T | |
| NR_045828.1:n.143-319G>T (APOM) | ||
| XM_006715150.2:c.11+73G>T (APOM) | XP_006715213.1:n.11+73G>T | |
| XM_011514895.1:c.-14+4168C>A (BAG6) | XP_011513197.1:n.-14+4168C>A | |
| XM_006715150.3:c.11+73G>T (APOM) | XP_006715213.1:n.11+73G>T | |
| XM_017011279.2:c.-14+4168C>A (BAG6) | XP_016866768.1:n.-14+4168C>A | |
| XM_024446545.1:c.-14+1611C>A (BAG6) | XP_024302313.1:n.-14+1611C>A | |
| NM_019101.3:c.114+73G>T (APOM) MANE Select | NP_061974.2:n.114+73G>T | |
| NM_001256169.2:c.-102-319G>T (APOM) | NP_001243098.1:n.-102-319G>T | |
| NR_045828.2:n.149-319G>T (APOM) |