Linked Data
ClinVar Variation Id:
2965336
ClinVar RCV Id:
RCV003823502
dbSNP Id:
rs773580745
ExAC:
19:18898370 C / T
gnomAD v2:
19-18898370-C-T
gnomAD v4:
19-18787561-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787561C>T , CM000681.2:g.18787561C>T | GRCh38 |
| NC_000019.9:g.18898370C>T , CM000681.1:g.18898370C>T | GRCh37 |
| NC_000019.8:g.18759370C>T | NCBI36 |
| NG_007070.1:g.8745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1065G>A MANE Select | ENSP00000222271.2:p.Lys355= | |
| ENST00000222271.6:c.1065G>A | ENSP00000222271.2:p.Lys355= | |
| ENST00000425807.1:c.906G>A | ENSP00000403792.1:p.Lys302= | |
| ENST00000542601.6:c.966G>A | ENSP00000439156.2:p.Lys322= | |
| NM_000095.2:c.1065G>A | NP_000086.2:p.Lys355= | |
| NM_000095.3:c.1065G>A MANE Select | NP_000086.2:p.Lys355= |