Linked Data
dbSNP Id:
rs776770580
ExAC:
2:215818621 A / G
gnomAD v2:
2-215818621-A-G
gnomAD v4:
2-214953897-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214953897A>G , CM000664.2:g.214953897A>G | GRCh38 |
| NC_000002.11:g.215818621A>G , CM000664.1:g.215818621A>G | GRCh37 |
| NC_000002.10:g.215526866A>G | NCBI36 |
| NG_007074.1:g.189531T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.6604T>C (ABCA12) MANE Select | ENSP00000272895.7:p.Ser2202Pro | |
| ENST00000272895.11:c.6604T>C (ABCA12) | ENSP00000272895.7:p.Ser2202Pro | |
| ENST00000389661.4:c.5650T>C (ABCA12) | ENSP00000374312.4:p.Ser1884Pro | |
| NM_015657.3:c.5650T>C (ABCA12) | NP_056472.2:p.Ser1884Pro | |
| NM_173076.2:c.6604T>C (ABCA12) | NP_775099.2:p.Ser2202Pro | |
| NR_103740.1:n.6904T>C (ABCA12) | ||
| NR_110292.1:n.444+5950A>G (SNHG31) | ||
| XM_011510951.1:c.6613T>C (ABCA12) | XP_011509253.1:p.Ser2205Pro | |
| XM_011510951.2:c.6613T>C (ABCA12) | XP_011509253.1:p.Ser2205Pro | |
| NM_173076.3:c.6604T>C (ABCA12) MANE Select | NP_775099.2:p.Ser2202Pro | |
| NR_103740.2:n.7102T>C (ABCA12) | ||
| NM_015657.4:c.5650T>C (ABCA12) | NP_056472.2:p.Ser1884Pro |