Linked Data
dbSNP Id:
rs1269448681
gnomAD v2:
2-215796794-A-C
gnomAD v3:
2-214932070-A-C
gnomAD v4:
2-214932070-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214932070A>C , CM000664.2:g.214932070A>C | GRCh38 |
| NC_000002.11:g.215796794A>C , CM000664.1:g.215796794A>C | GRCh37 |
| NC_000002.10:g.215505039A>C | NCBI36 |
| NG_007074.1:g.211358T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.*564T>G (ABCA12) MANE Select | ENSP00000272895.7:n.*564T>G | |
| ENST00000272895.11:c.*564T>G (ABCA12) | ENSP00000272895.7:n.*564T>G | |
| NM_015657.3:c.*564T>G (ABCA12) | NP_056472.2:n.*564T>G | |
| NM_173076.2:c.*564T>G (ABCA12) | NP_775099.2:n.*564T>G | |
| NR_103740.1:n.8652T>G (ABCA12) | ||
| NR_110292.1:n.322-15755A>C (SNHG31) | ||
| XM_011510951.1:c.*564T>G (ABCA12) | XP_011509253.1:n.*564T>G | |
| XM_011510951.2:c.*564T>G (ABCA12) | XP_011509253.1:n.*564T>G | |
| NM_173076.3:c.*564T>G (ABCA12) MANE Select | NP_775099.2:n.*564T>G | |
| NR_103740.2:n.8850T>G (ABCA12) | ||
| NM_015657.4:c.*564T>G (ABCA12) | NP_056472.2:n.*564T>G |