Linked Data
dbSNP Id:
rs755873537
ExAC:
2:215797438 T / C
gnomAD v2:
2-215797438-T-C
gnomAD v3:
2-214932714-T-C
gnomAD v4:
2-214932714-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214932714T>C , CM000664.2:g.214932714T>C | GRCh38 |
| NC_000002.11:g.215797438T>C , CM000664.1:g.215797438T>C | GRCh37 |
| NC_000002.10:g.215505683T>C | NCBI36 |
| NG_007074.1:g.210714A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.7708A>G (ABCA12) MANE Select | ENSP00000272895.7:p.Lys2570Glu | |
| ENST00000272895.11:c.7708A>G (ABCA12) | ENSP00000272895.7:p.Lys2570Glu | |
| ENST00000389661.4:c.6754A>G (ABCA12) | ENSP00000374312.4:p.Lys2252Glu | |
| NM_015657.3:c.6754A>G (ABCA12) | NP_056472.2:p.Lys2252Glu | |
| NM_173076.2:c.7708A>G (ABCA12) | NP_775099.2:p.Lys2570Glu | |
| NR_103740.1:n.8008A>G (ABCA12) | ||
| NR_110292.1:n.322-15111T>C (SNHG31) | ||
| XM_011510951.1:c.7717A>G (ABCA12) | XP_011509253.1:p.Lys2573Glu | |
| XM_011510951.2:c.7717A>G (ABCA12) | XP_011509253.1:p.Lys2573Glu | |
| NM_173076.3:c.7708A>G (ABCA12) MANE Select | NP_775099.2:p.Lys2570Glu | |
| NR_103740.2:n.8206A>G (ABCA12) | ||
| NM_015657.4:c.6754A>G (ABCA12) | NP_056472.2:p.Lys2252Glu |