Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659004C= , CM000685.2:g.136659004C= | GRCh38 |
| NC_000023.10:g.135741163C= , CM000685.1:g.135741163C= | GRCh37 |
| NC_000023.9:g.135568829C= | NCBI36 |
| NG_007280.1:g.15828C= , LRG_141:g.15828C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695724.1:c.*28-35C= | ENSP00000512122.1:n.*28-35C= | |
| ENST00000695725.1:c.157-35C= | ENSP00000512123.1:n.157-35C= | |
| ENST00000695726.1:n.2378-35C= | ||
| ENST00000695729.1:n.3213-35C= | ||
| ENST00000370629.7:c.410-35C= MANE Select | ENSP00000359663.2:n.410-35C= | |
| ENST00000370628.2:c.347-35C= | ENSP00000359662.2:n.347-35C= | |
| ENST00000370629.6:c.410-35C= | ENSP00000359663.2:n.410-35C= | |
| NM_000074.2:c.410-35C= , LRG_141t1:c.410-35C= | NP_000065.1:n.410-35C= | |
| NM_000074.3:c.410-35C= MANE Select | NP_000065.1:n.410-35C= |