Linked Data
ClinVar Variation Id:
3035587
ClinVar RCV Id:
RCV003912014
dbSNP Id:
rs575405475
ExAC:
2:211089951 G / A
gnomAD v2:
2-211089951-G-A
gnomAD v3:
2-210225227-G-A
gnomAD v4:
2-210225227-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210225227G>A , CM000664.2:g.210225227G>A | GRCh38 |
| NC_000002.11:g.211089951G>A , CM000664.1:g.211089951G>A | GRCh37 |
| NC_000002.10:g.210798196G>A | NCBI36 |
| NG_008002.1:g.5265C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233710.4:c.37C>T MANE Select | ENSP00000233710.3:p.Leu13= | |
| ENST00000233710.3:c.37C>T | ENSP00000233710.3:p.Leu13= | |
| ENST00000498120.5:n.221C>T | ||
| NM_001608.3:c.37C>T | NP_001599.1:p.Leu13= | |
| NM_001608.4:c.37C>T MANE Select | NP_001599.1:p.Leu13= |