Linked Data
ClinVar Variation Id:
2246773
ClinVar RCV Id:
RCV004106444
dbSNP Id:
rs1970511968
gnomAD v4:
19-45804391-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804391T>A , CM000681.2:g.45804391T>A | GRCh38 |
| NC_000019.9:g.46307649T>A , CM000681.1:g.46307649T>A | GRCh37 |
| NC_000019.8:g.50999489T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1514A>T MANE Select | ENSP00000221538.2:p.Glu505Val | |
| ENST00000221538.7:c.1514A>T | ENSP00000221538.2:p.Glu505Val | |
| ENST00000597055.1:c.1514A>T | ENSP00000472630.1:p.Glu505Val | |
| ENST00000600188.5:c.722A>T | ENSP00000471559.1:p.Glu241Val | |
| NM_030785.3:c.1514A>T | NP_110412.1:p.Glu505Val | |
| XM_011527351.1:c.1514A>T | XP_011525653.1:p.Glu505Val | |
| XM_011527351.2:c.1514A>T | XP_011525653.1:p.Glu505Val | |
| NM_030785.4:c.1514A>T MANE Select | NP_110412.1:p.Glu505Val |