Linked Data
ClinVar Variation Id:
370494
ClinVar RCV Id:
RCV000412421
dbSNP Id:
rs1057516531
gnomAD v4:
19-7530373-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530373C>T , CM000681.2:g.7530373C>T | GRCh38 |
| NC_000019.9:g.7595259C>T , CM000681.1:g.7595259C>T | GRCh37 |
| NC_000019.8:g.7501259C>T | NCBI36 |
| NG_013374.1:g.1222C>T | |
| NG_015806.1:g.12764C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1447C>T MANE Select | ENSP00000264079.5:p.Gln483Ter | |
| ENST00000264079.10:c.1447C>T | ENSP00000264079.5:p.Gln483Ter | |
| ENST00000394321.9:n.1762C>T | ||
| ENST00000594692.1:n.443C>T | ||
| ENST00000595860.5:n.630C>T | ||
| ENST00000599334.1:c.237-62C>T | ||
| NM_020533.2:c.1447C>T | NP_065394.1:p.Gln483Ter | |
| NM_020533.3:c.1447C>T MANE Select | NP_065394.1:p.Gln483Ter |