Linked Data
ClinVar Variation Id:
3264
ClinVar RCV Id:
RCV000003420
dbSNP Id:
rs104894662
PubMed:
PMID:8636348
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884767C>A , CM000680.2:g.13884767C>A | GRCh38 |
| NC_000018.9:g.13884766C>A , CM000680.1:g.13884766C>A | GRCh37 |
| NC_000018.8:g.13874766C>A | NCBI36 |
| NG_011819.1:g.35770G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327606.4:c.752G>T MANE Select | ENSP00000333821.2:p.Cys251Phe | |
| ENST00000327606.3:c.752G>T | ENSP00000333821.2:p.Cys251Phe | |
| NM_000529.2:c.752G>T MANE Select | NP_000520.1:p.Cys251Phe | |
| NM_001291911.1:c.752G>T | NP_001278840.1:p.Cys251Phe | |
| XM_017025781.1:c.752G>T | XP_016881270.1:p.Cys251Phe |