Linked Data
ClinVar Variation Id:
426049
ClinVar RCV Id:
RCV000488684
dbSNP Id:
rs1085307438
gnomAD v4:
2-26692898-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26692898C>A , CM000664.2:g.26692898C>A | GRCh38 |
| NC_000002.11:g.26915766C>A , CM000664.1:g.26915766C>A | GRCh37 |
| NC_000002.10:g.26769270C>A | NCBI36 |
| NG_033884.1:g.5186C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302909.4:c.23C>A MANE Select | ENSP00000306275.3:p.Thr8Lys | |
| ENST00000302909.3:c.23C>A | ENSP00000306275.3:p.Thr8Lys | |
| ENST00000620977.1:c.-347C>A | ENSP00000483136.1:n.-347C>A | |
| NM_002246.2:c.23C>A | NP_002237.1:p.Thr8Lys | |
| NM_002246.3:c.23C>A MANE Select | NP_002237.1:p.Thr8Lys |