Linked Data
dbSNP Id:
rs138672499
ExAC:
10:105218073 C / T
gnomAD v2:
10-105218073-C-T
gnomAD v3:
10-103458316-C-T
gnomAD v4:
10-103458316-C-T
COSMIC:
COSM1602926
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103458316C>T , CM000672.2:g.103458316C>T | GRCh38 |
| NC_000010.10:g.105218073C>T , CM000672.1:g.105218073C>T | GRCh37 |
| NC_000010.9:g.105208063C>T | NCBI36 |
| NG_016855.1:g.5576G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329905.6:c.436G>A MANE Select | ENSP00000329926.6:p.Gly146Ser | |
| ENST00000329905.5:c.436G>A | ENSP00000329926.5:p.Gly146Ser | |
| NM_001001412.3:c.436G>A | NP_001001412.3:p.Gly146Ser | |
| NM_001001412.4:c.436G>A MANE Select | NP_001001412.3:p.Gly146Ser |