Linked Data
ClinVar Variation Id:
438025
ClinVar RCV Id:
RCV000504635
dbSNP Id:
rs1553274531
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215900848A>T , CM000663.2:g.215900848A>T | GRCh38 |
| NC_000001.10:g.216074190A>T , CM000663.1:g.216074190A>T | GRCh37 |
| NC_000001.9:g.214140813A>T | NCBI36 |
| NG_009497.1:g.527549T>A | |
| NG_009497.2:g.527601T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.7358T>A MANE Select | ENSP00000305941.3:p.Val2453Asp | |
| ENST00000674083.1:c.7358T>A | ENSP00000501296.1:p.Val2453Asp | |
| ENST00000307340.7:c.7358T>A | ENSP00000305941.3:p.Val2453Asp | |
| NM_206933.2:c.7358T>A | NP_996816.2:p.Val2453Asp | |
| NM_206933.3:c.7358T>A | NP_996816.2:p.Val2453Asp | |
| NM_206933.4:c.7358T>A MANE Select | NP_996816.3:p.Val2453Asp |