Linked Data
ClinVar Variation Id:
2862
dbSNP Id:
rs137853289
gnomAD v2:
2-215818615-G-A
gnomAD v3:
2-214953891-G-A
gnomAD v4:
2-214953891-G-A
COSMIC:
COSM3391452
PubMed:
PMID:15756637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214953891G>A , CM000664.2:g.214953891G>A | GRCh38 |
| NC_000002.11:g.215818615G>A , CM000664.1:g.215818615G>A | GRCh37 |
| NC_000002.10:g.215526860G>A | NCBI36 |
| NG_007074.1:g.189537C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.6610C>T (ABCA12) MANE Select | ENSP00000272895.7:p.Arg2204Ter | |
| ENST00000272895.11:c.6610C>T (ABCA12) | ENSP00000272895.7:p.Arg2204Ter | |
| ENST00000389661.4:c.5656C>T (ABCA12) | ENSP00000374312.4:p.Arg1886Ter | |
| NM_015657.3:c.5656C>T (ABCA12) | NP_056472.2:p.Arg1886Ter | |
| NM_173076.2:c.6610C>T (ABCA12) | NP_775099.2:p.Arg2204Ter | |
| NR_103740.1:n.6910C>T (ABCA12) | ||
| NR_110292.1:n.444+5944G>A (SNHG31) | ||
| XM_011510951.1:c.6619C>T (ABCA12) | XP_011509253.1:p.Arg2207Ter | |
| XM_011510951.2:c.6619C>T (ABCA12) | XP_011509253.1:p.Arg2207Ter | |
| NM_173076.3:c.6610C>T (ABCA12) MANE Select | NP_775099.2:p.Arg2204Ter | |
| NR_103740.2:n.7108C>T (ABCA12) | ||
| NM_015657.4:c.5656C>T (ABCA12) | NP_056472.2:p.Arg1886Ter |