Linked Data
ClinVar Variation Id:
518089
ClinVar RCV Id:
RCV000612718
dbSNP Id:
rs545640420
gnomAD v2:
19-1401519-G-T
gnomAD v3:
19-1401520-G-T
gnomAD v4:
19-1401520-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401520G>T , CM000681.2:g.1401520G>T | GRCh38 |
| NC_000019.9:g.1401519G>T , CM000681.1:g.1401519G>T | GRCh37 |
| NC_000019.8:g.1352519G>T | NCBI36 |
| NG_009785.1:g.5034C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.-44C>A MANE Select | ENSP00000252288.1:n.-44C>A | |
| ENST00000447102.8:c.-44C>A | ENSP00000403536.2:n.-44C>A | |
| ENST00000252288.6:c.-44C>A | ENSP00000252288.1:n.-44C>A | |
| ENST00000447102.7:c.-44C>A | ENSP00000403536.2:n.-44C>A | |
| NM_000156.5:c.-44C>A | NP_000147.1:n.-44C>A | |
| NM_138924.2:c.-44C>A | NP_620279.1:n.-44C>A | |
| NM_000156.6:c.-44C>A MANE Select | NP_000147.1:n.-44C>A | |
| NM_138924.3:c.-44C>A | NP_620279.1:n.-44C>A |