Linked Data
ClinVar Variation Id:
2482448
ClinVar RCV Id:
RCV003214682
dbSNP Id:
rs2055153736
gnomAD v4:
19-18784922-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18784922C>T , CM000681.2:g.18784922C>T | GRCh38 |
| NC_000019.9:g.18895732C>T , CM000681.1:g.18895732C>T | GRCh37 |
| NC_000019.8:g.18756732C>T | NCBI36 |
| NG_007070.1:g.11383G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1888G>A MANE Select | ENSP00000222271.2:p.Val630Met | |
| ENST00000222271.6:c.1888G>A | ENSP00000222271.2:p.Val630Met | |
| ENST00000425807.1:c.1729G>A | ENSP00000403792.1:p.Val577Met | |
| ENST00000542601.6:c.1789G>A | ENSP00000439156.2:p.Val597Met | |
| NM_000095.2:c.1888G>A | NP_000086.2:p.Val630Met | |
| NM_000095.3:c.1888G>A MANE Select | NP_000086.2:p.Val630Met |