Linked Data
ClinVar Variation Id:
1977672
dbSNP Id:
rs367866651
ExAC:
11:116706939 T / C
gnomAD v2:
11-116706939-T-C
gnomAD v3:
11-116836223-T-C
gnomAD v4:
11-116836223-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116836223T>C , CM000673.2:g.116836223T>C | GRCh38 |
| NC_000011.9:g.116706939T>C , CM000673.1:g.116706939T>C | GRCh37 |
| NC_000011.8:g.116212149T>C | NCBI36 |
| NG_012021.1:g.6400A>G , LRG_767:g.6400A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.389A>G (APOA1) MANE Select | ENSP00000236850.3:p.Lys130Arg | |
| ENST00000236850.4:c.389A>G (APOA1) | ENSP00000236850.3:p.Lys130Arg | |
| ENST00000359492.6:c.389A>G (APOA1) | ENSP00000352471.2:p.Lys130Arg | |
| ENST00000375320.5:c.389A>G (APOA1) | ENSP00000364469.1:p.Lys130Arg | |
| ENST00000375323.5:c.389A>G (APOA1) | ENSP00000364472.1:p.Lys130Arg | |
| ENST00000375329.6:c.323A>G (APOA1) | ENSP00000364478.2:p.Lys108Arg | |
| NM_000039.1:c.389A>G , LRG_767t1:c.389A>G (APOA1) | NP_000030.1:p.Lys130Arg | |
| NR_126362.1:n.107T>C (APOA1-AS) | ||
| XM_005271539.2:c.389A>G (APOA1) | XP_005271596.1:p.Lys130Arg | |
| XM_005271540.1:c.389A>G (APOA1) | XP_005271597.1:p.Lys130Arg | |
| NM_000039.2:c.389A>G (APOA1) | NP_000030.1:p.Lys130Arg | |
| NM_001318017.1:c.389A>G (APOA1) | NP_001304946.1:p.Lys130Arg | |
| NM_001318018.1:c.389A>G (APOA1) | NP_001304947.1:p.Lys130Arg | |
| NM_001318021.1:c.62A>G (APOA1) | NP_001304950.1:p.Lys21Arg | |
| NM_001318017.2:c.389A>G (APOA1) | NP_001304946.1:p.Lys130Arg | |
| NM_001318018.2:c.389A>G (APOA1) | NP_001304947.1:p.Lys130Arg | |
| NM_000039.3:c.389A>G (APOA1) MANE Select | NP_000030.1:p.Lys130Arg |