Linked Data
ClinVar Variation Id:
2986425
ClinVar RCV Id:
RCV003844096
dbSNP Id:
rs1941540936
gnomAD v4:
11-116836141-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116836141C>G , CM000673.2:g.116836141C>G | GRCh38 |
| NC_000011.9:g.116706857C>G , CM000673.1:g.116706857C>G | GRCh37 |
| NC_000011.8:g.116212067C>G | NCBI36 |
| NG_012021.1:g.6482G>C , LRG_767:g.6482G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.471G>C (APOA1) MANE Select | ENSP00000236850.3:p.Lys157Asn | |
| ENST00000236850.4:c.471G>C (APOA1) | ENSP00000236850.3:p.Lys157Asn | |
| ENST00000359492.6:c.471G>C (APOA1) | ENSP00000352471.2:p.Lys157Asn | |
| ENST00000375320.5:c.471G>C (APOA1) | ENSP00000364469.1:p.Lys157Asn | |
| ENST00000375323.5:c.471G>C (APOA1) | ENSP00000364472.1:p.Lys157Asn | |
| ENST00000375329.6:c.405G>C (APOA1) | ENSP00000364478.2:p.Lys135Asn | |
| NM_000039.1:c.471G>C , LRG_767t1:c.471G>C (APOA1) | NP_000030.1:p.Lys157Asn | |
| NR_126362.1:n.25C>G (APOA1-AS) | ||
| XM_005271539.2:c.471G>C (APOA1) | XP_005271596.1:p.Lys157Asn | |
| XM_005271540.1:c.471G>C (APOA1) | XP_005271597.1:p.Lys157Asn | |
| NM_000039.2:c.471G>C (APOA1) | NP_000030.1:p.Lys157Asn | |
| NM_001318017.1:c.471G>C (APOA1) | NP_001304946.1:p.Lys157Asn | |
| NM_001318018.1:c.471G>C (APOA1) | NP_001304947.1:p.Lys157Asn | |
| NM_001318021.1:c.144G>C (APOA1) | NP_001304950.1:p.Lys48Asn | |
| NM_001318017.2:c.471G>C (APOA1) | NP_001304946.1:p.Lys157Asn | |
| NM_001318018.2:c.471G>C (APOA1) | NP_001304947.1:p.Lys157Asn | |
| NM_000039.3:c.471G>C (APOA1) MANE Select | NP_000030.1:p.Lys157Asn |