Linked Data
dbSNP Id:
rs761241198
gnomAD v4:
8-10622743-C-T
COSMIC:
COSM3643501
MyVariant Identifiers:
chr8:g.10480253C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622743C>T , CM000670.2:g.10622743C>T | GRCh38 |
| NC_000008.10:g.10480253C>T , CM000670.1:g.10480253C>T | GRCh37 |
| NC_000008.9:g.10517663C>T | NCBI36 |
| NG_028035.1:g.37365G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.459G>A MANE Select | ENSP00000371923.3:p.Arg153= | |
| ENST00000329335.3:n.709G>A | ||
| ENST00000382483.3:c.459G>A | ENSP00000371923.3:p.Arg153= | |
| NM_178857.5:c.459G>A | NP_849188.4:p.Arg153= | |
| NM_178857.6:c.459G>A MANE Select | NP_849188.4:p.Arg153= |