Linked Data
ClinVar Variation Id:
315642
ClinVar RCV Id:
RCV000263141
dbSNP Id:
rs775092898
gnomAD v3:
15-34343130-G-A
gnomAD v4:
15-34343130-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34343130G>A , CM000677.2:g.34343130G>A | GRCh38 |
| NC_000015.9:g.34635331G>A , CM000677.1:g.34635331G>A | GRCh37 |
| NC_000015.8:g.32422623G>A | NCBI36 |
| NG_011562.1:g.5032C>T , LRG_345:g.5032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557912.2:c.-57C>T | ENSP00000453475.1:n.-57C>T | |
| ENST00000699926.1:c.-57C>T | ENSP00000514692.1:n.-57C>T | |
| ENST00000699936.1:c.-242C>T | ENSP00000514699.1:n.-242C>T | |
| ENST00000699937.1:c.-57C>T | ENSP00000514700.1:n.-57C>T | |
| ENST00000699938.1:c.-57C>T | ENSP00000514701.1:n.-57C>T | |
| ENST00000699939.1:n.30C>T | ||
| ENST00000328848.6:c.-57C>T MANE Select | ENSP00000332198.5:n.-57C>T | |
| ENST00000328848.5:c.-57C>T | ENSP00000332198.4:n.-57C>T | |
| NM_018648.3:c.-57C>T , LRG_345t1:c.-57C>T | NP_061118.1:n.-57C>T | |
| NM_018648.4:c.-57C>T MANE Select | NP_061118.1:n.-57C>T |