Linked Data
ClinVar Variation Id:
2574312
ClinVar RCV Id:
RCV003318894
dbSNP Id:
rs773592041
ExAC:
14:21780591 G / A
gnomAD v2:
14-21780591-G-A
gnomAD v3:
14-21312432-G-A
gnomAD v4:
14-21312432-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312432G>A , CM000676.2:g.21312432G>A | GRCh38 |
| NC_000014.8:g.21780591G>A , CM000676.1:g.21780591G>A | GRCh37 |
| NC_000014.7:g.20850431G>A | NCBI36 |
| NG_008933.1:g.29456G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1078-1G>A MANE Select | ENSP00000382895.2:n.1078-1G>A | |
| ENST00000400017.6:c.1078-1G>A | ENSP00000382895.2:n.1078-1G>A | |
| ENST00000556336.5:c.997-1G>A | ENSP00000450445.1:n.997-1G>A | |
| ENST00000557771.5:c.997-1G>A | ENSP00000451219.1:n.997-1G>A | |
| NM_020366.3:c.1078-1G>A | NP_065099.3:n.1078-1G>A | |
| XM_011536983.1:c.1045-1G>A | XP_011535285.1:n.1045-1G>A | |
| NM_020366.4:c.1078-1G>A MANE Select | NP_065099.3:n.1078-1G>A |