Linked Data
dbSNP Id:
rs1952438
gnomAD v2:
14-55497948-G-A
gnomAD v3:
14-55031230-G-A
gnomAD v4:
14-55031230-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.55031230G>A , CM000676.2:g.55031230G>A | GRCh38 |
| NC_000014.8:g.55497948G>A , CM000676.1:g.55497948G>A | GRCh37 |
| NC_000014.7:g.54567698G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555846.2:c.-219-633G>A MANE Select | ENSP00000452522.1:n.-219-633G>A | |
| ENST00000339298.2:c.-91+3472G>A | ENSP00000341327.2:n.-91+3472G>A | |
| ENST00000395472.2:c.-91+3759G>A | ENSP00000378855.2:n.-91+3759G>A | |
| ENST00000553735.1:n.192-659G>A | ||
| ENST00000555846.1:c.-219-633G>A | ENSP00000452522.1:n.-219-633G>A | |
| NM_080867.2:c.-91+3759G>A | NP_543143.1:n.-91+3759G>A | |
| NM_199421.1:c.-219-633G>A | NP_955453.1:n.-219-633G>A | |
| XM_011536425.1:c.-278-574G>A | XP_011534727.1:n.-278-574G>A | |
| XM_011536426.1:c.-193-659G>A | XP_011534728.1:n.-193-659G>A | |
| NM_199421.2:c.-219-633G>A MANE Select | NP_955453.1:n.-219-633G>A | |
| NM_080867.3:c.-91+3759G>A | NP_543143.1:n.-91+3759G>A |