Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044232G>T , CM000672.2:g.114044232G>T | GRCh38 |
| NC_000010.10:g.115803991G>T , CM000672.1:g.115803991G>T | GRCh37 |
| NC_000010.9:g.115793981G>T | NCBI36 |
| NG_012187.1:g.5186G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.100G>T MANE Select | ENSP00000358301.2:p.Val34Leu | |
| ENST00000369295.3:c.100G>T | ENSP00000358301.2:p.Val34Leu | |
| NM_000684.2:c.100G>T | NP_000675.1:p.Val34Leu | |
| NM_000684.3:c.100G>T MANE Select | NP_000675.1:p.Val34Leu |