Linked Data
ClinVar Variation Id:
2707552
ClinVar RCV Id:
RCV003515558
MyVariant Identifiers:
chr14:g.35871774G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35402568G>A , CM000676.2:g.35402568G>A | GRCh38 |
| NC_000014.8:g.35871774G>A , CM000676.1:g.35871774G>A | GRCh37 |
| NC_000014.7:g.34941525G>A | NCBI36 |
| NG_007571.1:g.7171C>T , LRG_89:g.7171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553342.2:c.660C>T | ENSP00000451281.2:p.Asn220= | |
| ENST00000557459.2:n.1227C>T | ||
| ENST00000697954.1:n.941C>T | ||
| ENST00000697955.1:n.980C>T | ||
| ENST00000697956.1:n.1008C>T | ||
| ENST00000697957.1:n.1127C>T | ||
| ENST00000697958.1:n.1449C>T | ||
| ENST00000697959.1:n.1127C>T | ||
| ENST00000697960.1:n.1543C>T | ||
| ENST00000697961.1:c.732C>T | ENSP00000513487.1:p.Asn244= | |
| ENST00000697962.1:c.462C>T | ENSP00000513488.1:p.Asn154= | |
| ENST00000697966.1:n.750C>T | ||
| ENST00000216797.10:c.732C>T MANE Select | ENSP00000216797.6:p.Asn244= | |
| ENST00000216797.9:c.732C>T | ENSP00000216797.5:p.Asn244= | |
| ENST00000554001.5:c.*374C>T | ENSP00000450537.1:n.*374C>T | |
| ENST00000555371.1:n.381C>T | ||
| ENST00000557100.5:n.699C>T | ||
| ENST00000557140.5:c.637-34C>T | ENSP00000451257.1:n.637-34C>T | |
| ENST00000557389.1:c.462C>T | ENSP00000450514.1:p.Asn154= | |
| NM_020529.2:c.732C>T , LRG_89t1:c.732C>T | NP_065390.1:p.Asn244= | |
| NM_020529.3:c.732C>T MANE Select | NP_065390.1:p.Asn244= |