Linked Data
ClinVar Variation Id:
2459
ClinVar RCV Id:
RCV000002563
dbSNP Id:
rs121434386
gnomAD v3:
11-118141265-G-A
gnomAD v4:
11-118141265-G-A
PubMed:
PMID:17592081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118141265G>A , CM000673.2:g.118141265G>A | GRCh38 |
| NC_000011.9:g.118011980G>A , CM000673.1:g.118011980G>A | GRCh37 |
| NC_000011.8:g.117517190G>A | NCBI36 |
| NG_011710.1:g.16651C>T , LRG_330:g.16651C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324727.9:c.535C>T MANE Select | ENSP00000322460.4:p.Leu179Phe | |
| ENST00000324727.8:c.535C>T | ENSP00000322460.4:p.Leu179Phe | |
| ENST00000415030.6:n.678C>T | ||
| ENST00000423160.2:n.169C>T | ||
| ENST00000529878.1:c.133C>T | ENSP00000436343.1:p.Leu45Phe | |
| ENST00000531550.1:n.600C>T | ||
| ENST00000532138.1:n.791C>T | ||
| NM_001142348.1:c.133C>T | NP_001135820.1:p.Leu45Phe | |
| NM_001142349.1:c.205C>T | NP_001135821.1:p.Leu69Phe | |
| NM_174934.3:c.535C>T , LRG_330t1:c.535C>T | NP_777594.1:p.Leu179Phe | |
| NR_024527.1:n.560C>T | ||
| NM_001142348.2:c.133C>T | NP_001135820.1:p.Leu45Phe | |
| NM_001142349.2:c.205C>T | NP_001135821.1:p.Leu69Phe | |
| NR_024527.2:n.524C>T | ||
| NM_174934.4:c.535C>T MANE Select | NP_777594.1:p.Leu179Phe |