Linked Data
dbSNP Id:
rs1403854279
gnomAD v2:
6-31624002-C-G
gnomAD v3:
6-31656225-C-G
gnomAD v4:
6-31656225-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31656225C>G , CM000668.2:g.31656225C>G | GRCh38 |
| NC_000006.11:g.31624002C>G , CM000668.1:g.31624002C>G | GRCh37 |
| NC_000006.10:g.31731981C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375916.4:c.114+145C>G (APOM) MANE Select | ENSP00000365081.3:n.114+145C>G | |
| ENST00000375916.3:c.114+145C>G (APOM) | ENSP00000365081.3:n.114+145C>G | |
| ENST00000375918.6:c.-102-247C>G (APOM) | ENSP00000365083.2:n.-102-247C>G | |
| ENST00000375920.8:c.-102-247C>G (APOM) | ENSP00000365085.4:n.-102-247C>G | |
| NM_001256169.1:c.-102-247C>G (APOM) | NP_001243098.1:n.-102-247C>G | |
| NM_019101.2:c.114+145C>G (APOM) | NP_061974.2:n.114+145C>G | |
| NR_045828.1:n.143-247C>G (APOM) | ||
| XM_006715150.2:c.11+145C>G (APOM) | XP_006715213.1:n.11+145C>G | |
| XM_011514895.1:c.-14+4096G>C (BAG6) | XP_011513197.1:n.-14+4096G>C | |
| XM_006715150.3:c.11+145C>G (APOM) | XP_006715213.1:n.11+145C>G | |
| XM_017011279.2:c.-14+4096G>C (BAG6) | XP_016866768.1:n.-14+4096G>C | |
| XM_024446545.1:c.-14+1539G>C (BAG6) | XP_024302313.1:n.-14+1539G>C | |
| NM_019101.3:c.114+145C>G (APOM) MANE Select | NP_061974.2:n.114+145C>G | |
| NM_001256169.2:c.-102-247C>G (APOM) | NP_001243098.1:n.-102-247C>G | |
| NR_045828.2:n.149-247C>G (APOM) |