Linked Data
ClinVar Variation Id:
2619841
ClinVar RCV Id:
RCV003383290
dbSNP Id:
rs751883477
ExAC:
10:119307640 C / T
gnomAD v2:
10-119307640-C-T
gnomAD v3:
10-117548129-C-T
gnomAD v4:
10-117548129-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117548129C>T , CM000672.2:g.117548129C>T | GRCh38 |
| NC_000010.10:g.119307640C>T , CM000672.1:g.119307640C>T | GRCh37 |
| NC_000010.9:g.119297630C>T | NCBI36 |
| NG_013009.1:g.10685C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553456.5:c.656C>T MANE Select | ENSP00000450962.3:p.Ser219Leu | |
| ENST00000442245.5:c.471C>T | ENSP00000474874.1:p.Leu157= | |
| ENST00000546446.2:n.615C>T | ||
| ENST00000553456.4:c.656C>T | ENSP00000450962.3:p.Ser219Leu | |
| ENST00000616794.1:c.171C>T | ENSP00000480271.1:p.Leu57= | |
| NM_001165924.1:c.471C>T | NP_001159396.1:p.Leu157= | |
| NM_004098.3:c.656C>T | NP_004089.1:p.Ser219Leu | |
| NM_004098.4:c.656C>T MANE Select | NP_004089.1:p.Ser219Leu | |
| NM_001165924.2:c.471C>T | NP_001159396.1:p.Leu157= |