Linked Data
ClinVar Variation Id:
454409
ClinVar RCV Id:
RCV000555081
dbSNP Id:
rs1555863491
gnomAD v4:
19-55154067-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154067G>A , CM000681.2:g.55154067G>A | GRCh38 |
| NC_000019.9:g.55665435G>A , CM000681.1:g.55665435G>A | GRCh37 |
| NC_000019.8:g.60357247G>A | NCBI36 |
| NG_007866.2:g.8666C>T , LRG_432:g.8666C>T | |
| NG_011829.2:g.172C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.512C>T MANE Select | ENSP00000341838.5:p.Ala171Val | |
| ENST00000665070.1:c.545C>T | ENSP00000499482.1:p.Ala182Val | |
| ENST00000344887.9:c.512C>T | ENSP00000341838.5:p.Ala171Val | |
| ENST00000585806.5:n.511C>T | ||
| ENST00000588882.1:c.437C>T | ENSP00000466729.1:p.Ala146Val | |
| ENST00000589864.1:n.340C>T | ||
| NM_000363.4:c.512C>T , LRG_432t1:c.512C>T | NP_000354.4:p.Ala171Val | |
| NM_000363.5:c.512C>T MANE Select | NP_000354.4:p.Ala171Val |