Linked Data
ClinVar Variation Id:
14781
ClinVar RCV Id:
RCV000015904
dbSNP Id:
rs121912457
PubMed:
PMID:11369193
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31663854T>G , CM000683.2:g.31663854T>G | GRCh38 |
| NC_000021.8:g.33036167T>G , CM000683.1:g.33036167T>G | GRCh37 |
| NC_000021.7:g.31958038T>G | NCBI36 |
| NG_008689.1:g.9233T>G , LRG_652:g.9233T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270142.11:c.137T>G MANE Select | ENSP00000270142.7:p.Phe46Cys | |
| ENST00000270142.10:c.137T>G | ENSP00000270142.6:p.Phe46Cys | |
| ENST00000389995.4:c.80T>G | ENSP00000374645.4:p.Phe27Cys | |
| ENST00000470944.1:n.1065T>G | ||
| ENST00000476106.5:n.400T>G | ||
| NM_000454.4:c.137T>G , LRG_652t1:c.137T>G | NP_000445.1:p.Phe46Cys | |
| NM_000454.5:c.137T>G MANE Select | NP_000445.1:p.Phe46Cys |