Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.918604T>G , CM000681.2:g.918604T>G | GRCh38 |
| NC_000019.9:g.918604T>G , CM000681.1:g.918604T>G | GRCh37 |
| NC_000019.8:g.869604T>G | NCBI36 |
| NG_008277.1:g.6263T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234371.10:c.305T>G MANE Select | ENSP00000234371.3:p.Leu102Arg | |
| ENST00000234371.9:c.305T>G | ENSP00000234371.3:p.Leu102Arg | |
| ENST00000592648.1:c.244+858T>G | ENSP00000467666.1:n.244+858T>G | |
| ENST00000606939.2:c.305T>G | ENSP00000475639.1:p.Leu102Arg | |
| NM_032551.4:c.305T>G | NP_115940.2:p.Leu102Arg | |
| XM_017027382.1:c.305T>G | XP_016882871.1:p.Leu102Arg | |
| NM_032551.5:c.305T>G MANE Select | NP_115940.2:p.Leu102Arg |