Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70206169T>C , CM000673.2:g.70206169T>C | GRCh38 |
| NC_000011.9:g.70052275T>C , CM000673.1:g.70052275T>C | GRCh37 |
| NC_000011.8:g.69729923T>C | NCBI36 |
| NG_027966.1:g.8007T>C , LRG_228:g.8007T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301838.5:c.323T>C MANE Select | ENSP00000301838.5:p.Val108Ala | |
| ENST00000301838.4:c.323T>C | ENSP00000301838.4:p.Val108Ala | |
| NM_003824.3:c.323T>C , LRG_228t1:c.323T>C | NP_003815.1:p.Val108Ala | |
| NM_003824.4:c.323T>C MANE Select | NP_003815.1:p.Val108Ala |