Linked Data
ClinVar Variation Id:
2260784
ClinVar RCV Id:
RCV002802705
dbSNP Id:
rs1441177834
gnomAD v2:
2-215797366-C-T
gnomAD v3:
2-214932642-C-T
gnomAD v4:
2-214932642-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214932642C>T , CM000664.2:g.214932642C>T | GRCh38 |
| NC_000002.11:g.215797366C>T , CM000664.1:g.215797366C>T | GRCh37 |
| NC_000002.10:g.215505611C>T | NCBI36 |
| NG_007074.1:g.210786G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.7780G>A (ABCA12) MANE Select | ENSP00000272895.7:p.Glu2594Lys | |
| ENST00000272895.11:c.7780G>A (ABCA12) | ENSP00000272895.7:p.Glu2594Lys | |
| ENST00000389661.4:c.6826G>A (ABCA12) | ENSP00000374312.4:p.Glu2276Lys | |
| NM_015657.3:c.6826G>A (ABCA12) | NP_056472.2:p.Glu2276Lys | |
| NM_173076.2:c.7780G>A (ABCA12) | NP_775099.2:p.Glu2594Lys | |
| NR_103740.1:n.8080G>A (ABCA12) | ||
| NR_110292.1:n.322-15183C>T (SNHG31) | ||
| XM_011510951.1:c.7789G>A (ABCA12) | XP_011509253.1:p.Glu2597Lys | |
| XM_011510951.2:c.7789G>A (ABCA12) | XP_011509253.1:p.Glu2597Lys | |
| NM_173076.3:c.7780G>A (ABCA12) MANE Select | NP_775099.2:p.Glu2594Lys | |
| NR_103740.2:n.8278G>A (ABCA12) | ||
| NM_015657.4:c.6826G>A (ABCA12) | NP_056472.2:p.Glu2276Lys |