Linked Data
ClinVar Variation Id:
2148753
dbSNP Id:
rs755132744
ExAC:
19:36340182 C / T
gnomAD v2:
19-36340182-C-T
gnomAD v3:
19-35849280-C-T
gnomAD v4:
19-35849280-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849280C>T , CM000681.2:g.35849280C>T | GRCh38 |
| NC_000019.9:g.36340182C>T , CM000681.1:g.36340182C>T | GRCh37 |
| NC_000019.8:g.41032022C>T | NCBI36 |
| NG_013356.2:g.25008G>A , LRG_693:g.25008G>A | |
| NG_051206.1:g.2646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.796G>A MANE Select | ENSP00000368190.4:p.Val266Met | |
| ENST00000353632.6:c.796G>A | ENSP00000343634.5:p.Val266Met | |
| ENST00000378910.9:c.796G>A | ENSP00000368190.4:p.Val266Met | |
| NM_004646.3:c.796G>A , LRG_693t1:c.796G>A | NP_004637.1:p.Val266Met | |
| NM_004646.4:c.796G>A MANE Select | NP_004637.1:p.Val266Met |