Linked Data
ClinVar Variation Id:
926163
ClinVar RCV Id:
RCV001188560
dbSNP Id:
rs2085716252
gnomAD v4:
19-55154751-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154751T>A , CM000681.2:g.55154751T>A | GRCh38 |
| NC_000019.9:g.55666119T>A , CM000681.1:g.55666119T>A | GRCh37 |
| NC_000019.8:g.60357931T>A | NCBI36 |
| NG_007866.2:g.7982A>T , LRG_432:g.7982A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.362A>T MANE Select | ENSP00000341838.5:p.Asn121Ile | |
| ENST00000665070.1:c.362A>T | ENSP00000499482.1:p.Asn121Ile | |
| ENST00000344887.9:c.362A>T | ENSP00000341838.5:p.Asn121Ile | |
| ENST00000585806.5:n.361A>T | ||
| ENST00000586669.5:n.370A>T | ||
| ENST00000587176.5:n.546A>T | ||
| ENST00000588882.1:c.287A>T | ENSP00000466729.1:p.Asn96Ile | |
| ENST00000590463.1:n.534A>T | ||
| NM_000363.4:c.362A>T , LRG_432t1:c.362A>T | NP_000354.4:p.Asn121Ile | |
| NM_000363.5:c.362A>T MANE Select | NP_000354.4:p.Asn121Ile |