Linked Data
ClinVar Variation Id:
2913825
ClinVar RCV Id:
RCV003629933
dbSNP Id:
rs775963900
ExAC:
14:35871226 G / A
gnomAD v2:
14-35871226-G-A
gnomAD v3:
14-35402020-G-A
gnomAD v4:
14-35402020-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35402020G>A , CM000676.2:g.35402020G>A | GRCh38 |
| NC_000014.8:g.35871226G>A , CM000676.1:g.35871226G>A | GRCh37 |
| NC_000014.7:g.34940977G>A | NCBI36 |
| NG_007571.1:g.7719C>T , LRG_89:g.7719C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553342.2:c.875C>T | ENSP00000451281.2:p.Thr292Met | |
| ENST00000557459.2:n.1775C>T | ||
| ENST00000697954.1:n.1156C>T | ||
| ENST00000697955.1:n.1195C>T | ||
| ENST00000697956.1:n.1223C>T | ||
| ENST00000697957.1:n.1342C>T | ||
| ENST00000697958.1:n.1997C>T | ||
| ENST00000697959.1:n.1675C>T | ||
| ENST00000697960.1:n.2091C>T | ||
| ENST00000697961.1:c.*362C>T | ENSP00000513487.1:n.*362C>T | |
| ENST00000697962.1:c.*362C>T | ENSP00000513488.1:n.*362C>T | |
| ENST00000697965.1:n.155C>T | ||
| ENST00000216797.10:c.947C>T MANE Select | ENSP00000216797.6:p.Thr316Met | |
| ENST00000216797.9:c.947C>T | ENSP00000216797.5:p.Thr316Met | |
| ENST00000554001.5:c.*589C>T | ENSP00000450537.1:n.*589C>T | |
| ENST00000555371.1:n.596C>T | ||
| ENST00000557140.5:c.818C>T | ENSP00000451257.1:p.Thr273Met | |
| ENST00000557389.1:c.677C>T | ENSP00000450514.1:p.Thr226Met | |
| NM_020529.2:c.947C>T , LRG_89t1:c.947C>T | NP_065390.1:p.Thr316Met | |
| NM_020529.3:c.947C>T MANE Select | NP_065390.1:p.Thr316Met |