Linked Data
dbSNP Id:
rs749635730
ExAC:
2:215797368 A / C
gnomAD v2:
2-215797368-A-C
gnomAD v4:
2-214932644-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214932644A>C , CM000664.2:g.214932644A>C | GRCh38 |
| NC_000002.11:g.215797368A>C , CM000664.1:g.215797368A>C | GRCh37 |
| NC_000002.10:g.215505613A>C | NCBI36 |
| NG_007074.1:g.210784T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.7778T>G (ABCA12) MANE Select | ENSP00000272895.7:p.Met2593Arg | |
| ENST00000272895.11:c.7778T>G (ABCA12) | ENSP00000272895.7:p.Met2593Arg | |
| ENST00000389661.4:c.6824T>G (ABCA12) | ENSP00000374312.4:p.Met2275Arg | |
| NM_015657.3:c.6824T>G (ABCA12) | NP_056472.2:p.Met2275Arg | |
| NM_173076.2:c.7778T>G (ABCA12) | NP_775099.2:p.Met2593Arg | |
| NR_103740.1:n.8078T>G (ABCA12) | ||
| NR_110292.1:n.322-15181A>C (SNHG31) | ||
| XM_011510951.1:c.7787T>G (ABCA12) | XP_011509253.1:p.Met2596Arg | |
| XM_011510951.2:c.7787T>G (ABCA12) | XP_011509253.1:p.Met2596Arg | |
| NM_173076.3:c.7778T>G (ABCA12) MANE Select | NP_775099.2:p.Met2593Arg | |
| NR_103740.2:n.8276T>G (ABCA12) | ||
| NM_015657.4:c.6824T>G (ABCA12) | NP_056472.2:p.Met2275Arg |