Linked Data
dbSNP Id:
rs17511627
gnomAD v2:
13-26724328-A-C
gnomAD v3:
13-26150190-A-C
gnomAD v4:
13-26150190-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.26150190A>C , CM000675.2:g.26150190A>C | GRCh38 |
| NC_000013.10:g.26724328A>C , CM000675.1:g.26724328A>C | GRCh37 |
| NC_000013.9:g.25622328A>C | NCBI36 |
| NG_017042.2:g.77182T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426792.2:n.199+618T>G (ATP8A2P3) | ||
| ENST00000426792.1:n.199+618T>G (ATP8A2P3) | ||
| ENST00000468480.5:n.769-17739T>G (RNF6) | ||
| NM_183045.1:c.409-17739T>G (RNF6) | NP_898866.1:n.409-17739T>G | |
| XM_011535178.1:c.409-17739T>G (RNF6) | XP_011533480.1:n.409-17739T>G | |
| XM_011535178.2:c.409-17739T>G (RNF6) | XP_011533480.1:n.409-17739T>G |