Revel Score:
ENST00000272895 (MANE Select)
0.867
ENST00000389661
0.867
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214947489C>T , CM000664.2:g.214947489C>T | GRCh38 |
| NC_000002.11:g.215812213C>T , CM000664.1:g.215812213C>T | GRCh37 |
| NC_000002.10:g.215520458C>T | NCBI36 |
| NG_007074.1:g.195939G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.7172G>A (ABCA12) MANE Select | ENSP00000272895.7:p.Ser2391Asn | |
| ENST00000272895.11:c.7172G>A (ABCA12) | ENSP00000272895.7:p.Ser2391Asn | |
| ENST00000389661.4:c.6218G>A (ABCA12) | ENSP00000374312.4:p.Ser2073Asn | |
| NM_015657.3:c.6218G>A (ABCA12) | NP_056472.2:p.Ser2073Asn | |
| NM_173076.2:c.7172G>A (ABCA12) | NP_775099.2:p.Ser2391Asn | |
| NR_103740.1:n.7472G>A (ABCA12) | ||
| NR_110292.1:n.322-336C>T (SNHG31) | ||
| XM_011510951.1:c.7181G>A (ABCA12) | XP_011509253.1:p.Ser2394Asn | |
| XM_011510951.2:c.7181G>A (ABCA12) | XP_011509253.1:p.Ser2394Asn | |
| NM_173076.3:c.7172G>A (ABCA12) MANE Select | NP_775099.2:p.Ser2391Asn | |
| NR_103740.2:n.7670G>A (ABCA12) | ||
| NM_015657.4:c.6218G>A (ABCA12) | NP_056472.2:p.Ser2073Asn |