Linked Data
dbSNP Id:
rs749937042
ExAC:
10:96748825 C / T
gnomAD v2:
10-96748825-C-T
gnomAD v4:
10-94989068-C-T
MyVariant Identifiers:
chr10:g.96748825C>T (hg19)
chr10:g.96748825_96748826delinsTA (hg19)
chr10:g.94989068C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989068C>T , CM000672.2:g.94989068C>T | GRCh38 |
| NC_000010.10:g.96748825C>T , CM000672.1:g.96748825C>T | GRCh37 |
| NC_000010.9:g.96738815C>T | NCBI36 |
| NG_008385.1:g.55411C>T | |
| NG_008385.2:g.55911C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.*40C>T MANE Select | ENSP00000260682.6:n.*40C>T | |
| ENST00000643112.1:c.*522C>T | ENSP00000496202.1:n.*522C>T | |
| ENST00000260682.6:c.*40C>T | ENSP00000260682.6:n.*40C>T | |
| NM_000771.3:c.*40C>T | NP_000762.2:n.*40C>T | |
| NM_000771.4:c.*40C>T MANE Select | NP_000762.2:n.*40C>T |