Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727299T>G , CM000672.2:g.87727299T>G | GRCh38 |
| NC_000010.10:g.89487056T>G , CM000672.1:g.89487056T>G | GRCh37 |
| NC_000010.9:g.89477036T>G | NCBI36 |
| NG_012150.1:g.72581T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.896T>G MANE Select | ENSP00000406157.1:p.Met299Arg | |
| ENST00000361175.8:c.881T>G | ENSP00000354436.4:p.Met294Arg | |
| ENST00000456849.1:c.896T>G | ENSP00000406157.1:p.Met299Arg | |
| NM_001015880.1:c.896T>G | NP_001015880.1:p.Met299Arg | |
| NM_004670.3:c.881T>G | NP_004661.2:p.Met294Arg | |
| NM_001015880.2:c.896T>G MANE Select | NP_001015880.1:p.Met299Arg | |
| NM_004670.4:c.881T>G | NP_004661.2:p.Met294Arg |