Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.255939T>G , CM000669.2:g.255939T>G | GRCh38 |
| NC_000007.13:g.295905T>G , CM000669.1:g.295905T>G | GRCh37 |
| NG_033970.1:g.65575T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020223.4:c.1163T>G MANE Select | NP_064608.2:p.Leu388Arg |
| ENST00000313766.6:c.1163T>G MANE Select | ENSP00000322323.5:p.Leu388Arg |
| NM_020223.3:c.1163T>G | NP_064608.2:p.Leu388Arg |
| ENST00000313766.5:c.1163T>G | ENSP00000322323.5:p.Leu388Arg |
| ENST00000515795.1:n.820T>G | |
| XM_017012450.1:c.1424T>G | XP_016867939.1:p.Leu475Arg |
| XM_017012451.1:c.1421T>G | XP_016867940.1:p.Leu474Arg |
| XM_017012455.2:c.461T>G | XP_016867944.1:p.Leu154Arg |
| XR_242097.3:n.1310T>G |