ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55974970G>A , CM000666.2:g.55974970G>A | GRCh38 |
| NC_000004.11:g.56841136G>A , CM000666.1:g.56841136G>A | GRCh37 |
| NC_000004.10:g.56535893G>A | NCBI36 |
| NG_032806.1:g.31163G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257287.5:c.1473+1G>A MANE Select | ENSP00000257287.3:n.1473+1G>A | |
| ENST00000257287.4:c.1473+1G>A | ENSP00000257287.3:n.1473+1G>A | |
| ENST00000506202.1:n.1423+1G>A | ||
| NM_025009.4:c.1473+1G>A | NP_079285.2:n.1473+1G>A | |
| XM_005265788.2:c.402+1G>A | XP_005265845.1:n.402+1G>A | |
| XM_006714055.2:c.1440+1G>A | XP_006714118.1:n.1440+1G>A | |
| XM_011534412.1:c.-58+3562G>A | XP_011532714.1:n.-58+3562G>A | |
| XM_005265788.4:c.402+1G>A | XP_005265845.1:n.402+1G>A | |
| XM_006714055.3:c.1440+1G>A | XP_006714118.1:n.1440+1G>A | |
| XM_011534412.2:c.-58+3562G>A | XP_011532714.1:n.-58+3562G>A | |
| NM_025009.5:c.1473+1G>A MANE Select | NP_079285.2:n.1473+1G>A |