Linked Data
ClinVar Variation Id:
143144
dbSNP Id:
rs527236113
gnomAD v4:
2-96293090-C-T
COSMIC:
COSM1227000
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96293090C>T , CM000664.2:g.96293090C>T | GRCh38 |
| NC_000002.11:g.96958828C>T , CM000664.1:g.96958828C>T | GRCh37 |
| NC_000002.10:g.96322555C>T | NCBI36 |
| NG_016973.1:g.17470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.2042G>A MANE Select | ENSP00000317123.5:p.Arg681His | |
| ENST00000652267.1:c.2042G>A | ENSP00000498933.1:p.Arg681His | |
| ENST00000323853.9:c.2042G>A | ENSP00000317123.5:p.Arg681His | |
| NM_014014.4:c.2042G>A | NP_054733.2:p.Arg681His | |
| NM_014014.5:c.2042G>A MANE Select | NP_054733.2:p.Arg681His |