Linked Data
dbSNP Id:
rs181295131
gnomAD v2:
18-42800090-A-C
gnomAD v3:
18-45220125-A-C
gnomAD v4:
18-45220125-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45220125A>C , CM000680.2:g.45220125A>C | GRCh38 |
| NC_000018.9:g.42800090A>C , CM000680.1:g.42800090A>C | GRCh37 |
| NC_000018.8:g.41054088A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586448.5:c.-125+6934A>C | ENSP00000465953.1:n.-125+6934A>C | |
| NM_001242692.1:c.-125+6934A>C | NP_001229621.1:n.-125+6934A>C | |
| XM_011526216.1:c.-251+6934A>C | XP_011524518.1:n.-251+6934A>C | |
| XM_017026016.2:c.-125+6934A>C | XP_016881505.1:n.-125+6934A>C | |
| XM_024451270.1:c.-125+6934A>C | XP_024307038.1:n.-125+6934A>C | |
| XM_024451271.1:c.-125+6934A>C | XP_024307039.1:n.-125+6934A>C | |
| NM_001242692.2:c.-125+6934A>C | NP_001229621.1:n.-125+6934A>C | |
| NM_001371319.1:c.-125+6934A>C | NP_001358248.1:n.-125+6934A>C |