Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46854131T>G , CM000685.2:g.46854131T>G | GRCh38 |
| NC_000023.10:g.46713566T>G , CM000685.1:g.46713566T>G | GRCh37 |
| NC_000023.9:g.46598510T>G | NCBI36 |
| NG_009107.1:g.22220T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006915.3:c.758T>G MANE Select | NP_008846.2:p.Leu253Arg |
| ENST00000218340.4:c.758T>G MANE Select | ENSP00000218340.3:p.Leu253Arg |
| NM_006915.2:c.758T>G | NP_008846.2:p.Leu253Arg |
| ENST00000218340.3:c.758T>G | ENSP00000218340.3:p.Leu253Arg |