Linked Data
ClinVar Variation Id:
1139890
ClinVar RCV Id:
RCV001476732
dbSNP Id:
rs143798499
gnomAD v4:
14-35404459-G-T
MyVariant Identifiers:
chr14:g.35873665G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35404459G>T , CM000676.2:g.35404459G>T | GRCh38 |
| NC_000014.8:g.35873665G>T , CM000676.1:g.35873665G>T | GRCh37 |
| NC_000014.7:g.34943416G>T | NCBI36 |
| NG_007571.1:g.5280C>A , LRG_89:g.5280C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553342.2:c.136-22C>A | ENSP00000451281.2:n.136-22C>A | |
| ENST00000557459.2:n.284C>A | ||
| ENST00000697957.1:n.291C>A | ||
| ENST00000697958.1:n.284C>A | ||
| ENST00000697959.1:n.291C>A | ||
| ENST00000697960.1:n.271C>A | ||
| ENST00000697961.1:c.186C>A | ENSP00000513487.1:p.Gly62= | |
| ENST00000697966.1:n.204C>A | ||
| ENST00000216797.10:c.186C>A MANE Select | ENSP00000216797.6:p.Gly62= | |
| ENST00000216797.9:c.186C>A | ENSP00000216797.5:p.Gly62= | |
| ENST00000553342.1:c.136-22C>A | ENSP00000451281.1:n.136-22C>A | |
| ENST00000554001.5:c.186C>A | ENSP00000450537.1:p.Gly62= | |
| ENST00000555629.1:n.291C>A | ||
| ENST00000557100.5:n.242C>A | ||
| ENST00000557140.5:c.186C>A | ENSP00000451257.1:p.Gly62= | |
| ENST00000557459.1:n.284C>A | ||
| NM_020529.2:c.186C>A , LRG_89t1:c.186C>A | NP_065390.1:p.Gly62= | |
| NM_020529.3:c.186C>A MANE Select | NP_065390.1:p.Gly62= |