Linked Data
ClinVar Variation Id:
313108
dbSNP Id:
rs8904
ExAC:
14:35871217 G / A
gnomAD v2:
14-35871217-G-A
gnomAD v3:
14-35402011-G-A
gnomAD v4:
14-35402011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35402011G>A , CM000676.2:g.35402011G>A | GRCh38 |
| NC_000014.8:g.35871217G>A , CM000676.1:g.35871217G>A | GRCh37 |
| NC_000014.7:g.34940968G>A | NCBI36 |
| NG_007571.1:g.7728C>T , LRG_89:g.7728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553342.2:c.*2C>T | ENSP00000451281.2:n.*2C>T | |
| ENST00000557459.2:n.1784C>T | ||
| ENST00000697954.1:n.1165C>T | ||
| ENST00000697955.1:n.1204C>T | ||
| ENST00000697956.1:n.1232C>T | ||
| ENST00000697957.1:n.1351C>T | ||
| ENST00000697958.1:n.2006C>T | ||
| ENST00000697959.1:n.1684C>T | ||
| ENST00000697960.1:n.2100C>T | ||
| ENST00000697961.1:c.*371C>T | ENSP00000513487.1:n.*371C>T | |
| ENST00000697962.1:c.*371C>T | ENSP00000513488.1:n.*371C>T | |
| ENST00000697965.1:n.164C>T | ||
| ENST00000216797.10:c.*2C>T MANE Select | ENSP00000216797.6:n.*2C>T | |
| ENST00000216797.9:c.*2C>T | ENSP00000216797.5:n.*2C>T | |
| ENST00000554001.5:c.*598C>T | ENSP00000450537.1:n.*598C>T | |
| ENST00000555371.1:n.605C>T | ||
| ENST00000557140.5:c.*2C>T | ENSP00000451257.1:n.*2C>T | |
| ENST00000557389.1:c.*2C>T | ENSP00000450514.1:n.*2C>T | |
| NM_020529.2:c.*2C>T , LRG_89t1:c.*2C>T | NP_065390.1:n.*2C>T | |
| NM_020529.3:c.*2C>T MANE Select | NP_065390.1:n.*2C>T |