Linked Data
ClinVar Variation Id:
375694
ClinVar RCV Id:
RCV000489871
dbSNP Id:
rs1085307111
PubMed:
PMID:28513613
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50793784C>T , CM000681.2:g.50793784C>T | GRCh38 |
| NC_000019.9:g.51297041C>T , CM000681.1:g.51297041C>T | GRCh37 |
| NC_000019.8:g.55988853C>T | NCBI36 |
| NG_052652.1:g.8370C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270593.2:c.746C>T MANE Select | ENSP00000270593.1:p.Pro249Leu | |
| ENST00000270593.1:c.746C>T | ENSP00000270593.1:p.Pro249Leu | |
| NM_033068.2:c.746C>T | NP_149059.1:p.Pro249Leu | |
| NM_033068.3:c.746C>T MANE Select | NP_149059.1:p.Pro249Leu |