Linked Data
ClinVar Variation Id:
302510
dbSNP Id:
rs750125257
ExAC:
11:116708076 C / T
gnomAD v2:
11-116708076-C-T
gnomAD v3:
11-116837360-C-T
gnomAD v4:
11-116837360-C-T
COSMIC:
COSM1183225
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116837360C>T , CM000673.2:g.116837360C>T | GRCh38 |
| NC_000011.9:g.116708076C>T , CM000673.1:g.116708076C>T | GRCh37 |
| NC_000011.8:g.116213286C>T | NCBI36 |
| NG_012021.1:g.5263G>A , LRG_767:g.5263G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.28G>A (APOA1) MANE Select | ENSP00000236850.3:p.Val10Met | |
| ENST00000236850.4:c.28G>A (APOA1) | ENSP00000236850.3:p.Val10Met | |
| ENST00000359492.6:c.28G>A (APOA1) | ENSP00000352471.2:p.Val10Met | |
| ENST00000375320.5:c.28G>A (APOA1) | ENSP00000364469.1:p.Val10Met | |
| ENST00000375323.5:c.28G>A (APOA1) | ENSP00000364472.1:p.Val10Met | |
| ENST00000375329.6:c.119G>A (APOA1) | ENSP00000364478.2:p.Arg40His | |
| NM_000039.1:c.28G>A , LRG_767t1:c.28G>A (APOA1) | NP_000030.1:p.Val10Met | |
| NR_126362.1:n.123+1121C>T (APOA1-AS) | ||
| XM_005271539.2:c.28G>A (APOA1) | XP_005271596.1:p.Val10Met | |
| XM_005271540.1:c.28G>A (APOA1) | XP_005271597.1:p.Val10Met | |
| NM_000039.2:c.28G>A (APOA1) | NP_000030.1:p.Val10Met | |
| NM_001318017.1:c.28G>A (APOA1) | NP_001304946.1:p.Val10Met | |
| NM_001318018.1:c.28G>A (APOA1) | NP_001304947.1:p.Val10Met | |
| NM_001318021.1:c.-256G>A (APOA1) | NP_001304950.1:n.-256G>A | |
| NM_001318017.2:c.28G>A (APOA1) | NP_001304946.1:p.Val10Met | |
| NM_001318018.2:c.28G>A (APOA1) | NP_001304947.1:p.Val10Met | |
| NM_000039.3:c.28G>A (APOA1) MANE Select | NP_000030.1:p.Val10Met |