Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96160314T>G , CM000670.2:g.96160314T>G | GRCh38 |
| NC_000008.10:g.97172542T>G , CM000670.1:g.97172542T>G | GRCh37 |
| NC_000008.9:g.97241718T>G | NCBI36 |
| NG_008981.1:g.5479A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.379A>C MANE Select | ENSP00000287020.4:p.Ile127Leu | |
| ENST00000287020.6:c.379A>C | ENSP00000287020.4:p.Ile127Leu | |
| ENST00000620978.1:c.379A>C | ENSP00000480170.1:p.Ile127Leu | |
| ENST00000621429.1:c.379A>C | ENSP00000483711.1:p.Ile127Leu | |
| NM_001001557.2:c.379A>C | NP_001001557.1:p.Ile127Leu | |
| NM_001001557.3:c.379A>C | NP_001001557.1:p.Ile127Leu | |
| NM_001001557.4:c.379A>C MANE Select | NP_001001557.1:p.Ile127Leu |