Linked Data
ClinVar Variation Id:
302508
dbSNP Id:
rs760886281
ExAC:
11:116707749 C / T
gnomAD v2:
11-116707749-C-T
gnomAD v4:
11-116837033-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116837033C>T , CM000673.2:g.116837033C>T | GRCh38 |
| NC_000011.9:g.116707749C>T , CM000673.1:g.116707749C>T | GRCh37 |
| NC_000011.8:g.116212959C>T | NCBI36 |
| NG_012021.1:g.5590G>A , LRG_767:g.5590G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.168G>A (APOA1) MANE Select | ENSP00000236850.3:p.Gln56= | |
| ENST00000236850.4:c.168G>A (APOA1) | ENSP00000236850.3:p.Gln56= | |
| ENST00000359492.6:c.168G>A (APOA1) | ENSP00000352471.2:p.Gln56= | |
| ENST00000375320.5:c.168G>A (APOA1) | ENSP00000364469.1:p.Gln56= | |
| ENST00000375323.5:c.168G>A (APOA1) | ENSP00000364472.1:p.Gln56= | |
| ENST00000375329.6:c.134+312G>A (APOA1) | ENSP00000364478.2:n.134+312G>A | |
| NM_000039.1:c.168G>A , LRG_767t1:c.168G>A (APOA1) | NP_000030.1:p.Gln56= | |
| NR_126362.1:n.123+794C>T (APOA1-AS) | ||
| XM_005271539.2:c.168G>A (APOA1) | XP_005271596.1:p.Gln56= | |
| XM_005271540.1:c.168G>A (APOA1) | XP_005271597.1:p.Gln56= | |
| NM_000039.2:c.168G>A (APOA1) | NP_000030.1:p.Gln56= | |
| NM_001318017.1:c.168G>A (APOA1) | NP_001304946.1:p.Gln56= | |
| NM_001318018.1:c.168G>A (APOA1) | NP_001304947.1:p.Gln56= | |
| NM_001318021.1:c.-160G>A (APOA1) | NP_001304950.1:n.-160G>A | |
| NM_001318017.2:c.168G>A (APOA1) | NP_001304946.1:p.Gln56= | |
| NM_001318018.2:c.168G>A (APOA1) | NP_001304947.1:p.Gln56= | |
| NM_000039.3:c.168G>A (APOA1) MANE Select | NP_000030.1:p.Gln56= |