Linked Data
ClinVar Variation Id:
419453
ClinVar RCV Id:
RCV002231097
dbSNP Id:
rs199503269
ExAC:
2:215802332 G / A
gnomAD v2:
2-215802332-G-A
gnomAD v3:
2-214937608-G-A
gnomAD v4:
2-214937608-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214937608G>A , CM000664.2:g.214937608G>A | GRCh38 |
| NC_000002.11:g.215802332G>A , CM000664.1:g.215802332G>A | GRCh37 |
| NC_000002.10:g.215510577G>A | NCBI36 |
| NG_007074.1:g.205820C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.7444C>T (ABCA12) MANE Select | ENSP00000272895.7:p.Arg2482Ter | |
| ENST00000272895.11:c.7444C>T (ABCA12) | ENSP00000272895.7:p.Arg2482Ter | |
| ENST00000389661.4:c.6490C>T (ABCA12) | ENSP00000374312.4:p.Arg2164Ter | |
| NM_015657.3:c.6490C>T (ABCA12) | NP_056472.2:p.Arg2164Ter | |
| NM_173076.2:c.7444C>T (ABCA12) | NP_775099.2:p.Arg2482Ter | |
| NR_103740.1:n.7744C>T (ABCA12) | ||
| NR_110292.1:n.322-10217G>A (SNHG31) | ||
| XM_011510951.1:c.7453C>T (ABCA12) | XP_011509253.1:p.Arg2485Ter | |
| XM_011510951.2:c.7453C>T (ABCA12) | XP_011509253.1:p.Arg2485Ter | |
| NM_173076.3:c.7444C>T (ABCA12) MANE Select | NP_775099.2:p.Arg2482Ter | |
| NR_103740.2:n.7942C>T (ABCA12) | ||
| NM_015657.4:c.6490C>T (ABCA12) | NP_056472.2:p.Arg2164Ter |