Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348712G= , CM000685.2:g.101348712G= | GRCh38 |
| NC_000023.10:g.100603700G= , CM000685.1:g.100603700G= | GRCh37 |
| NC_000023.9:g.100490356G= | NCBI36 |
| NG_009616.1:g.42513C= , LRG_128:g.42513C= | |
| NG_011734.1:g.5258C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.-48C= MANE Select | ENSP00000361993.3:n.-48C= | |
| ENST00000644112.2:c.-48C= | ENSP00000494385.1:n.-48C= | |
| ENST00000372902.3:c.-48C= | ENSP00000361993.3:n.-48C= | |
| ENST00000480575.1:n.38C= | ||
| NM_001145951.1:c.-48C= | NP_001139423.1:n.-48C= | |
| NM_004085.3:c.-48C= | NP_004076.1:n.-48C= | |
| NM_004085.4:c.-48C= MANE Select | NP_004076.1:n.-48C= | |
| NM_001145951.2:c.-48C= | NP_001139423.1:n.-48C= |