Linked Data
ClinVar Variation Id:
16365
dbSNP Id:
rs121913090
ExAC:
4:155527985 T / A
gnomAD v2:
4-155527985-T-A
gnomAD v3:
4-154606833-T-A
gnomAD v4:
4-154606833-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154606833T>A , CM000666.2:g.154606833T>A | GRCh38 |
| NC_000004.11:g.155527985T>A , CM000666.1:g.155527985T>A | GRCh37 |
| NC_000004.10:g.155747435T>A | NCBI36 |
| NG_008834.1:g.10918A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336098.8:c.1001A>T MANE Select | ENSP00000336829.3:p.Asn334Ile | |
| ENST00000336098.7:c.1001A>T | ENSP00000336829.3:p.Asn334Ile | |
| ENST00000404648.7:c.1001A>T | ENSP00000384860.3:p.Asn334Ile | |
| ENST00000405164.5:c.1025A>T | ENSP00000384101.1:p.Asn342Ile | |
| ENST00000407946.5:c.1025A>T | ENSP00000384552.1:p.Asn342Ile | |
| ENST00000465913.1:n.549A>T | ||
| ENST00000492082.5:n.1543A>T | ||
| NM_000509.4:c.1001A>T | NP_000500.2:p.Asn334Ile | |
| NM_000509.5:c.1001A>T | NP_000500.2:p.Asn334Ile | |
| NM_021870.2:c.1001A>T | NP_068656.2:p.Asn334Ile | |
| NM_021870.3:c.1001A>T MANE Select | NP_068656.2:p.Asn334Ile | |
| NM_000509.6:c.1001A>T | NP_000500.2:p.Asn334Ile |