Linked Data
ClinVar Variation Id:
2695101
ClinVar RCV Id:
RCV003541939
dbSNP Id:
rs759737171
ExAC:
2:215818624 A / T
gnomAD v2:
2-215818624-A-T
gnomAD v3:
2-214953900-A-T
gnomAD v4:
2-214953900-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214953900A>T , CM000664.2:g.214953900A>T | GRCh38 |
| NC_000002.11:g.215818624A>T , CM000664.1:g.215818624A>T | GRCh37 |
| NC_000002.10:g.215526869A>T | NCBI36 |
| NG_007074.1:g.189528T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.6601T>A (ABCA12) MANE Select | ENSP00000272895.7:p.Phe2201Ile | |
| ENST00000272895.11:c.6601T>A (ABCA12) | ENSP00000272895.7:p.Phe2201Ile | |
| ENST00000389661.4:c.5647T>A (ABCA12) | ENSP00000374312.4:p.Phe1883Ile | |
| NM_015657.3:c.5647T>A (ABCA12) | NP_056472.2:p.Phe1883Ile | |
| NM_173076.2:c.6601T>A (ABCA12) | NP_775099.2:p.Phe2201Ile | |
| NR_103740.1:n.6901T>A (ABCA12) | ||
| NR_110292.1:n.444+5953A>T (SNHG31) | ||
| XM_011510951.1:c.6610T>A (ABCA12) | XP_011509253.1:p.Phe2204Ile | |
| XM_011510951.2:c.6610T>A (ABCA12) | XP_011509253.1:p.Phe2204Ile | |
| NM_173076.3:c.6601T>A (ABCA12) MANE Select | NP_775099.2:p.Phe2201Ile | |
| NR_103740.2:n.7099T>A (ABCA12) | ||
| NM_015657.4:c.5647T>A (ABCA12) | NP_056472.2:p.Phe1883Ile |