Linked Data
MyVariant Identifiers:
chr10:g.112338410T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110578652T>C , CM000672.2:g.110578652T>C | GRCh38 |
| NC_000010.10:g.112338410T>C , CM000672.1:g.112338410T>C | GRCh37 |
| NC_000010.9:g.112328400T>C | NCBI36 |
| NG_012217.1:g.15962T>C , LRG_774:g.15962T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.508T>C | ||
| ENST00000687823.1:n.289T>C | ||
| ENST00000689932.1:n.2438T>C | ||
| ENST00000691297.1:n.508T>C | ||
| ENST00000691527.1:n.1178T>C | ||
| ENST00000692792.1:n.494T>C | ||
| ENST00000361804.5:c.375T>C MANE Select | ENSP00000354720.5:p.Leu125= | |
| ENST00000361804.4:c.375T>C | ENSP00000354720.4:p.Leu125= | |
| ENST00000462899.1:n.521T>C | ||
| NM_005445.3:c.375T>C , LRG_774t1:c.375T>C | NP_005436.1:p.Leu125= | |
| NM_005445.4:c.375T>C MANE Select | NP_005436.1:p.Leu125= |