Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878817T>G , CM000664.2:g.240878817T>G | GRCh38 |
| NC_000002.11:g.241818234T>G , CM000664.1:g.241818234T>G | GRCh37 |
| NC_000002.10:g.241466907T>G | NCBI36 |
| NG_008005.1:g.15073T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1175T>G MANE Select | ENSP00000302620.3:p.Leu392Arg | |
| ENST00000307503.3:c.1175T>G | ENSP00000302620.3:p.Leu392Arg | |
| ENST00000470255.1:n.953T>G | ||
| NM_000030.2:c.1175T>G | NP_000021.1:p.Leu392Arg | |
| NM_000030.3:c.1175T>G MANE Select | NP_000021.1:p.Leu392Arg |