Linked Data
ClinVar Variation Id:
1640496
ClinVar RCV Id:
RCV002139885
dbSNP Id:
rs1568456184
gnomAD v3:
19-35849106-G-T
gnomAD v4:
19-35849106-G-T
MyVariant Identifiers:
chr19:g.36340008G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849106G>T , CM000681.2:g.35849106G>T | GRCh38 |
| NC_000019.9:g.36340008G>T , CM000681.1:g.36340008G>T | GRCh37 |
| NC_000019.8:g.41031848G>T | NCBI36 |
| NG_013356.2:g.25182C>A , LRG_693:g.25182C>A | |
| NG_051206.1:g.2472G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.882C>A MANE Select | ENSP00000368190.4:p.Thr294= | |
| ENST00000353632.6:c.882C>A | ENSP00000343634.5:p.Thr294= | |
| ENST00000378910.9:c.882C>A | ENSP00000368190.4:p.Thr294= | |
| NM_004646.3:c.882C>A , LRG_693t1:c.882C>A | NP_004637.1:p.Thr294= | |
| NM_004646.4:c.882C>A MANE Select | NP_004637.1:p.Thr294= |