Linked Data
ClinVar Variation Id:
3206361
ClinVar RCV Id:
RCV004499760
dbSNP Id:
rs767188831
ExAC:
11:56258473 A / T
gnomAD v2:
11-56258473-A-T
gnomAD v4:
11-56490997-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.56490997A>T , CM000673.2:g.56490997A>T | GRCh38 |
| NC_000011.9:g.56258473A>T , CM000673.1:g.56258473A>T | GRCh37 |
| NC_000011.8:g.56015049A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327216.5:c.374T>A MANE Select | ENSP00000323354.2:p.Ile125Asn | |
| ENST00000327216.4:c.374T>A | ENSP00000323354.2:p.Ile125Asn | |
| ENST00000327216.3:c.374T>A | ENSP00000323354.2:p.Ile125Asn | |
| NM_001005282.1:c.374T>A MANE Select | NP_001005282.1:p.Ile125Asn |