Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119452494G= , CM000667.2:g.119452494G= | GRCh38 |
| NC_000005.9:g.118788189G= , CM000667.1:g.118788189G= | GRCh37 |
| NC_000005.8:g.118816088G= | NCBI36 |
| NG_008182.1:g.5042G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.-82G= | ENSP00000426272.2:n.-82G= | |
| ENST00000682996.1:c.-82G= | ENSP00000507792.1:n.-82G= | |
| ENST00000683936.1:c.-82G= | ENSP00000507721.1:n.-82G= | |
| ENST00000683974.1:n.1G= | ||
| ENST00000684214.1:c.-82G= | ENSP00000508071.1:n.-82G= | |
| ENST00000256216.10:c.-82G= | ENSP00000256216.6:n.-82G= | |
| ENST00000511186.5:n.22G= | ||
| NM_000414.3:c.-82G= | NP_000405.1:n.-82G= | |
| NM_001199292.1:c.-82G= | NP_001186221.1:n.-82G= | |
| NM_001292027.1:c.-219G= | NP_001278956.1:n.-219G= |