Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23396676G= , CM000676.2:g.23396676G= | GRCh38 |
| NC_000014.8:g.23865885G= , CM000676.1:g.23865885G= | GRCh37 |
| NC_000014.7:g.22935725G= | NCBI36 |
| NG_023444.1:g.16602C= , LRG_389:g.16602C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.2292+18C= MANE Select | NP_002462.2:n.2292+18C= |
| ENST00000405093.9:c.2292+18C= MANE Select | ENSP00000386041.3:n.2292+18C= |
| NM_002471.3:c.2292+18C= , LRG_389t1:c.2292+18C= | NP_002462.2:n.2292+18C= |
| ENST00000356287.3:c.2292+18C= | ENSP00000348634.3:n.2292+18C= |
| ENST00000405093.7:c.2292+18C= | ENSP00000386041.3:n.2292+18C= |