Linked Data
ClinVar Variation Id:
3127887
ClinVar RCV Id:
RCV004417720
dbSNP Id:
rs200213347
ExAC:
11:116707838 G / A
gnomAD v2:
11-116707838-G-A
gnomAD v3:
11-116837122-G-A
gnomAD v4:
11-116837122-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116837122G>A , CM000673.2:g.116837122G>A | GRCh38 |
| NC_000011.9:g.116707838G>A , CM000673.1:g.116707838G>A | GRCh37 |
| NC_000011.8:g.116213048G>A | NCBI36 |
| NG_012021.1:g.5501C>T , LRG_767:g.5501C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.79C>T (APOA1) MANE Select | ENSP00000236850.3:p.Pro27Ser | |
| ENST00000236850.4:c.79C>T (APOA1) | ENSP00000236850.3:p.Pro27Ser | |
| ENST00000359492.6:c.79C>T (APOA1) | ENSP00000352471.2:p.Pro27Ser | |
| ENST00000375320.5:c.79C>T (APOA1) | ENSP00000364469.1:p.Pro27Ser | |
| ENST00000375323.5:c.79C>T (APOA1) | ENSP00000364472.1:p.Pro27Ser | |
| ENST00000375329.6:c.134+223C>T (APOA1) | ENSP00000364478.2:n.134+223C>T | |
| NM_000039.1:c.79C>T , LRG_767t1:c.79C>T (APOA1) | NP_000030.1:p.Pro27Ser | |
| NR_126362.1:n.123+883G>A (APOA1-AS) | ||
| XM_005271539.2:c.79C>T (APOA1) | XP_005271596.1:p.Pro27Ser | |
| XM_005271540.1:c.79C>T (APOA1) | XP_005271597.1:p.Pro27Ser | |
| NM_000039.2:c.79C>T (APOA1) | NP_000030.1:p.Pro27Ser | |
| NM_001318017.1:c.79C>T (APOA1) | NP_001304946.1:p.Pro27Ser | |
| NM_001318018.1:c.79C>T (APOA1) | NP_001304947.1:p.Pro27Ser | |
| NM_001318021.1:c.-240-9C>T (APOA1) | NP_001304950.1:n.-240-9C>T | |
| NM_001318017.2:c.79C>T (APOA1) | NP_001304946.1:p.Pro27Ser | |
| NM_001318018.2:c.79C>T (APOA1) | NP_001304947.1:p.Pro27Ser | |
| NM_000039.3:c.79C>T (APOA1) MANE Select | NP_000030.1:p.Pro27Ser |