Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55231662G= , CM000667.2:g.55231662G= | GRCh38 |
| NC_000005.9:g.54527490G= , CM000667.1:g.54527490G= | GRCh37 |
| NC_000005.8:g.54563247G= | NCBI36 |
| NG_034201.1:g.7056C= | |
| NG_051620.1:g.654C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.766C= MANE Select | ENSP00000282572.4:p.Leu256= | |
| ENST00000282572.4:c.766C= | ENSP00000282572.4:p.Leu256= | |
| ENST00000501463.2:c.*746C= | ENSP00000422485.1:n.*746C= | |
| NM_021147.4:c.766C= | NP_066970.3:p.Leu256= | |
| NR_125346.1:n.1336C= | ||
| NR_125347.1:n.965C= | ||
| NR_125348.1:n.830C= | ||
| NM_021147.5:c.766C= MANE Select | NP_066970.3:p.Leu256= | |
| NR_125346.2:n.1227C= | ||
| NR_125347.2:n.856C= |