Linked Data
ClinVar Variation Id:
411173
ClinVar RCV Id:
RCV000456977
dbSNP Id:
rs752795172
ExAC:
14:50101480 C / A
gnomAD v4:
14-49634762-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49634762C>A , CM000676.2:g.49634762C>A | GRCh38 |
| NC_000014.8:g.50101480C>A , CM000676.1:g.50101480C>A | GRCh37 |
| NC_000014.7:g.49171230C>A | NCBI36 |
| NG_013070.1:g.5469G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298292.13:c.388G>T MANE Select | ENSP00000298292.8:p.Glu130Ter | |
| ENST00000298292.12:c.388G>T | ENSP00000298292.8:p.Glu130Ter | |
| ENST00000406043.3:c.388G>T | ENSP00000384862.3:p.Glu130Ter | |
| NM_001083908.1:c.388G>T | NP_001077377.1:p.Glu130Ter | |
| NM_018139.2:c.388G>T | NP_060609.2:p.Glu130Ter | |
| NM_001083908.2:c.388G>T | NP_001077377.1:p.Glu130Ter | |
| NM_018139.3:c.388G>T MANE Select | NP_060609.2:p.Glu130Ter |