Linked Data
ClinVar Variation Id:
3000047
ClinVar RCV Id:
RCV003857222
dbSNP Id:
rs137853289
gnomAD v4:
2-214953891-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214953891G>T , CM000664.2:g.214953891G>T | GRCh38 |
| NC_000002.11:g.215818615G>T , CM000664.1:g.215818615G>T | GRCh37 |
| NC_000002.10:g.215526860G>T | NCBI36 |
| NG_007074.1:g.189537C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.6610C>A (ABCA12) MANE Select | ENSP00000272895.7:p.Arg2204= | |
| ENST00000272895.11:c.6610C>A (ABCA12) | ENSP00000272895.7:p.Arg2204= | |
| ENST00000389661.4:c.5656C>A (ABCA12) | ENSP00000374312.4:p.Arg1886= | |
| NM_015657.3:c.5656C>A (ABCA12) | NP_056472.2:p.Arg1886= | |
| NM_173076.2:c.6610C>A (ABCA12) | NP_775099.2:p.Arg2204= | |
| NR_103740.1:n.6910C>A (ABCA12) | ||
| NR_110292.1:n.444+5944G>T (SNHG31) | ||
| XM_011510951.1:c.6619C>A (ABCA12) | XP_011509253.1:p.Arg2207= | |
| XM_011510951.2:c.6619C>A (ABCA12) | XP_011509253.1:p.Arg2207= | |
| NM_173076.3:c.6610C>A (ABCA12) MANE Select | NP_775099.2:p.Arg2204= | |
| NR_103740.2:n.7108C>A (ABCA12) | ||
| NM_015657.4:c.5656C>A (ABCA12) | NP_056472.2:p.Arg1886= |