Linked Data
ClinVar Variation Id:
1086912
ClinVar RCV Id:
RCV001404832
dbSNP Id:
rs1959061331
MyVariant Identifiers:
chr13:g.20763532C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189393C>A , CM000675.2:g.20189393C>A | GRCh38 |
| NC_000013.10:g.20763532C>A , CM000675.1:g.20763532C>A | GRCh37 |
| NC_000013.9:g.19661532C>A | NCBI36 |
| NG_008358.1:g.8583G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.189G>T | ENSP00000372295.1:p.Val63= | |
| ENST00000382848.5:c.189G>T MANE Select | ENSP00000372299.4:p.Val63= | |
| ENST00000382844.1:c.189G>T | ENSP00000372295.1:p.Val63= | |
| ENST00000382848.4:c.189G>T | ENSP00000372299.4:p.Val63= | |
| NM_004004.5:c.189G>T | NP_003995.2:p.Val63= | |
| XM_011535049.1:c.189G>T | XP_011533351.1:p.Val63= | |
| XM_011535049.2:c.189G>T | XP_011533351.1:p.Val63= | |
| NM_004004.6:c.189G>T MANE Select | NP_003995.2:p.Val63= |