Linked Data
ClinVar Variation Id:
9200
ClinVar RCV Id:
RCV000009778
dbSNP Id:
rs137852649
ExAC:
10:124802643 C / T
gnomAD v2:
10-124802643-C-T
gnomAD v3:
10-123043127-C-T
gnomAD v4:
10-123043127-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123043127C>T , CM000672.2:g.123043127C>T | GRCh38 |
| NC_000010.10:g.124802643C>T , CM000672.1:g.124802643C>T | GRCh37 |
| NC_000010.9:g.124792633C>T | NCBI36 |
| NG_008003.1:g.39215C>T , LRG_451:g.39215C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358776.7:c.763C>T MANE Select | ENSP00000357873.3:p.Leu255Phe | |
| ENST00000358776.6:c.763C>T | ENSP00000357873.3:p.Leu255Phe | |
| ENST00000368869.8:c.457C>T | ENSP00000357862.4:p.Leu153Phe | |
| NM_001609.3:c.763C>T , LRG_451t1:c.763C>T | NP_001600.1:p.Leu255Phe | |
| NM_001330174.1:c.457C>T | NP_001317103.1:p.Leu153Phe | |
| NM_001330174.2:c.457C>T | NP_001317103.1:p.Leu153Phe | |
| NM_001609.4:c.763C>T MANE Select | NP_001600.1:p.Leu255Phe | |
| NM_001330174.3:c.457C>T | NP_001317103.1:p.Leu153Phe |