Linked Data
ClinVar Variation Id:
392772
ClinVar RCV Id:
RCV000441067
dbSNP Id:
rs1057524624
gnomAD v3:
1-2228725-G-A
gnomAD v4:
1-2228725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2228725G>A , CM000663.2:g.2228725G>A | GRCh38 |
| NC_000001.10:g.2160164G>A , CM000663.1:g.2160164G>A | GRCh37 |
| NC_000001.9:g.2150024G>A | NCBI36 |
| NG_013084.1:g.5031G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.137+1201G>A | ||
| ENST00000378536.5:c.-42G>A MANE Select | ENSP00000367797.4:n.-42G>A | |
| ENST00000378536.4:c.-42G>A | ENSP00000367797.4:n.-42G>A | |
| NM_003036.3:c.-42G>A | NP_003027.1:n.-42G>A | |
| XM_005244775.3:c.-42G>A | XP_005244832.1:n.-42G>A | |
| NM_003036.4:c.-42G>A MANE Select | NP_003027.1:n.-42G>A |