Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23424910A>C , CM000678.2:g.23424910A>C | GRCh38 |
| NC_000016.9:g.23436231A>C , CM000678.1:g.23436231A>C | GRCh37 |
| NC_000016.8:g.23343732A>C | NCBI36 |
| NG_021287.1:g.33282T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153603.4:c.848T>G MANE Select | NP_705831.1:p.Leu283Arg |
| ENST00000307149.10:c.848T>G MANE Select | ENSP00000305442.5:p.Leu283Arg |
| NM_153603.3:c.848T>G | NP_705831.1:p.Leu283Arg |
| ENST00000307149.9:c.848T>G | ENSP00000305442.5:p.Leu283Arg |
| XM_017023870.1:c.653T>G | XP_016879359.1:p.Leu218Arg |
| XR_002957852.1:n.1069T>G | |
| XR_429680.1:n.1064T>G | |
| XR_429680.2:n.1069T>G |