Linked Data
ClinVar Variation Id:
5934
dbSNP Id:
rs104893729
ExAC:
3:190122576 G / T
gnomAD v2:
3-190122576-G-T
gnomAD v3:
3-190404787-G-T
gnomAD v4:
3-190404787-G-T
COSMIC:
COSM4596122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404787G>T , CM000665.2:g.190404787G>T | GRCh38 |
| NC_000003.11:g.190122576G>T , CM000665.1:g.190122576G>T | GRCh37 |
| NC_000003.10:g.191605270G>T | NCBI36 |
| NG_008149.1:g.21736G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.243G>T MANE Select | ENSP00000264734.3:p.Leu81Phe | |
| ENST00000456423.2:c.115-5116G>T | ENSP00000414136.2:n.115-5116G>T | |
| ENST00000264734.2:c.453G>T | ENSP00000264734.2:p.Leu151Phe | |
| ENST00000456423.1:c.325-5116G>T | ENSP00000414136.1:n.325-5116G>T | |
| ENST00000468220.1:n.435G>T | ||
| NM_006580.3:c.453G>T | NP_006571.1:p.Leu151Phe | |
| NM_001378492.1:c.243G>T | NP_001365421.1:p.Leu81Phe | |
| NM_001378493.1:c.243G>T | NP_001365422.1:p.Leu81Phe | |
| NM_006580.4:c.243G>T MANE Select | NP_006571.2:p.Leu81Phe |