Linked Data
ClinVar Variation Id:
93381
ClinVar RCV Id:
RCV000179777
dbSNP Id:
rs398123513
gnomAD v4:
19-41422739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422739C>T , CM000681.2:g.41422739C>T | GRCh38 |
| NC_000019.9:g.41928644C>T , CM000681.1:g.41928644C>T | GRCh37 |
| NC_000019.8:g.46620484C>T | NCBI36 |
| NG_013004.1:g.29951C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.964C>T MANE Select | ENSP00000269980.2:p.Gln322Ter | |
| ENST00000269980.6:c.964C>T | ENSP00000269980.2:p.Gln322Ter | |
| ENST00000457836.6:c.898C>T | ENSP00000416000.2:p.Gln300Ter | |
| ENST00000535632.5:n.593C>T | ||
| ENST00000540732.3:c.1066C>T | ENSP00000443246.1:p.Gln356Ter | |
| ENST00000542943.5:c.877C>T | ENSP00000440345.1:p.Gln293Ter | |
| ENST00000595085.5:c.922+42C>T | ENSP00000471150.2:n.922+42C>T | |
| NM_000709.3:c.964C>T | NP_000700.1:p.Gln322Ter | |
| NM_001164783.1:c.961C>T | NP_001158255.1:p.Gln321Ter | |
| NM_000709.4:c.964C>T MANE Select | NP_000700.1:p.Gln322Ter | |
| NM_001164783.2:c.961C>T | NP_001158255.1:p.Gln321Ter |