Linked Data
ClinVar Variation Id:
1646
ClinVar RCV Id:
RCV000001713
dbSNP Id:
rs118204013
PubMed:
PMID:19182804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42839212A>G , CM000670.2:g.42839212A>G | GRCh38 |
| NC_000008.10:g.42694355A>G , CM000670.1:g.42694355A>G | GRCh37 |
| NC_000008.9:g.42813512A>G | NCBI36 |
| NG_011837.1:g.9120T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254250.7:c.241T>C MANE Select | ENSP00000254250.3:p.Phe81Leu | |
| ENST00000345117.2:c.72-876T>C | ENSP00000344966.2:n.72-876T>C | |
| ENST00000529779.1:c.241T>C | ENSP00000433912.1:p.Phe81Leu | |
| ENST00000532093.1:n.471T>C | ||
| NM_018105.2:c.241T>C | NP_060575.1:p.Phe81Leu | |
| NM_199003.1:c.72-876T>C | NP_945354.1:n.72-876T>C | |
| NM_018105.3:c.241T>C MANE Select | NP_060575.1:p.Phe81Leu | |
| NM_199003.2:c.72-876T>C | NP_945354.1:n.72-876T>C |