Linked Data
ClinVar Variation Id:
2809826
ClinVar RCV Id:
RCV003613596
gnomAD v4:
19-7525061-T-C
MyVariant Identifiers:
chr19:g.7589947T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525061T>C , CM000681.2:g.7525061T>C | GRCh38 |
| NC_000019.9:g.7589947T>C , CM000681.1:g.7589947T>C | GRCh37 |
| NC_000019.8:g.7495947T>C | NCBI36 |
| NG_015806.1:g.7452T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.132T>C MANE Select | ENSP00000264079.5:p.Arg44= | |
| ENST00000264079.10:c.132T>C | ENSP00000264079.5:p.Arg44= | |
| ENST00000394321.9:n.212T>C | ||
| ENST00000596390.1:n.248T>C | ||
| ENST00000601003.1:c.132T>C | ENSP00000469074.1:p.Arg44= | |
| NM_020533.2:c.132T>C | NP_065394.1:p.Arg44= | |
| NM_020533.3:c.132T>C MANE Select | NP_065394.1:p.Arg44= |