Linked Data
dbSNP Id:
rs2578189
gnomAD v2:
18-43680700-C-T
gnomAD v3:
18-46100734-C-T
gnomAD v4:
18-46100734-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46100734C>T , CM000680.2:g.46100734C>T | GRCh38 |
| NC_000018.9:g.43680700C>T , CM000680.1:g.43680700C>T | GRCh37 |
| NC_000018.8:g.41934698C>T | NCBI36 |
| NG_041769.1:g.8500G>A | |
| NG_041769.2:g.13500G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282050.6:c.-48-2455G>A | ENSP00000282050.2:n.-48-2455G>A | |
| ENST00000589869.5:c.-91+3403G>A | ENSP00000465497.1:n.-91+3403G>A | |
| ENST00000590324.5:c.-277+3403G>A | ENSP00000465259.1:n.-277+3403G>A | |
| ENST00000590406.5:c.-48-2455G>A | ENSP00000468458.1:n.-48-2455G>A | |
| ENST00000590448.5:n.117+3403G>A | ||
| ENST00000592989.1:c.-83+3403G>A | ENSP00000467830.1:n.-83+3403G>A | |
| NM_001001937.1:c.-48-2455G>A | NP_001001937.1:n.-48-2455G>A | |
| XM_011526018.1:c.-91+3403G>A | XP_011524320.1:n.-91+3403G>A | |
| NM_001001937.2:c.-48-2455G>A | NP_001001937.1:n.-48-2455G>A |