Linked Data
ClinVar Variation Id:
787547
ClinVar RCV Id:
RCV000969799
dbSNP Id:
rs142456942
ExAC:
11:122944293 C / T
gnomAD v2:
11-122944293-C-T
gnomAD v3:
11-123073585-C-T
gnomAD v4:
11-123073585-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123073585C>T , CM000673.2:g.123073585C>T | GRCh38 |
| NC_000011.9:g.122944293C>T , CM000673.1:g.122944293C>T | GRCh37 |
| NC_000011.8:g.122449503C>T | NCBI36 |
| NG_042818.1:g.126721G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448775.4:c.1011G>A MANE Select | ENSP00000405577.2:p.Gly337= | |
| ENST00000448775.3:c.1011G>A | ENSP00000405577.2:p.Gly337= | |
| ENST00000530371.5:n.485G>A | ||
| NM_024769.2:c.1011G>A | NP_079045.1:p.Gly337= | |
| NM_024769.3:c.1011G>A | NP_079045.1:p.Gly337= | |
| XR_429008.2:n.414+10072C>T | ||
| NM_024769.4:c.1011G>A | NP_079045.1:p.Gly337= | |
| NM_024769.5:c.1011G>A MANE Select | NP_079045.1:p.Gly337= |