Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919644T>G , CM000678.2:g.89919644T>G | GRCh38 |
| NC_000016.9:g.89986052T>G , CM000678.1:g.89986052T>G | GRCh37 |
| NC_000016.8:g.88513553T>G | NCBI36 |
| NG_012026.1:g.6766T>G | |
| NG_027810.1:g.2636T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.386T>G MANE Select | ENSP00000451605.1:p.Leu129Arg | |
| ENST00000639847.1:c.386T>G | ENSP00000492011.1:p.Leu129Arg | |
| ENST00000555147.1:c.386T>G | ENSP00000451605.1:p.Leu129Arg | |
| ENST00000555427.1:c.386T>G | ENSP00000451760.1:p.Leu129Arg | |
| ENST00000556922.1:c.386T>G | ENSP00000451560.1:p.Leu129Arg | |
| NM_002386.3:c.386T>G | NP_002377.4:p.Leu129Arg | |
| NM_002386.4:c.386T>G MANE Select | NP_002377.4:p.Leu129Arg |