Linked Data
ClinVar Variation Id:
180976
dbSNP Id:
rs730880570
gnomAD v2:
11-47358995-T-A
gnomAD v4:
11-47337444-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337444T>A , CM000673.2:g.47337444T>A | GRCh38 |
| NC_000011.9:g.47358995T>A , CM000673.1:g.47358995T>A | GRCh37 |
| NC_000011.8:g.47315571T>A | NCBI36 |
| NG_007667.1:g.20259A>T , LRG_386:g.20259A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2549A>T MANE Select | ENSP00000442795.1:p.Asn850Ile | |
| ENST00000256993.8:c.2549A>T | ENSP00000256993.5:p.Asn850Ile | |
| ENST00000399249.6:c.2549A>T | ENSP00000382193.2:p.Asn850Ile | |
| ENST00000544791.1:c.*54A>T | ENSP00000444259.1:n.*54A>T | |
| ENST00000545968.5:c.2549A>T | ENSP00000442795.1:p.Asn850Ile | |
| NM_000256.3:c.2549A>T , LRG_386t1:c.2549A>T MANE Select | NP_000247.2:p.Asn850Ile | |
| XM_011520117.1:c.2531A>T | XP_011518419.1:p.Asn844Ile | |
| XM_011520118.1:c.2468A>T | XP_011518420.1:p.Asn823Ile |