Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165419864A= , CM000663.2:g.165419864A= | GRCh38 |
| NC_000001.10:g.165389101A= , CM000663.1:g.165389101A= | GRCh37 |
| NC_000001.9:g.163655725A= | NCBI36 |
| NG_029517.1:g.30492T= | |
| NG_029517.2:g.30492T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359842.10:c.442+6T= MANE Select | ENSP00000352900.5:n.442+6T= | |
| ENST00000359842.9:c.442+6T= | ENSP00000352900.5:n.442+6T= | |
| ENST00000470566.1:n.367+6T= | ||
| ENST00000619224.1:c.73+6T= | ENSP00000482458.1:n.73+6T= | |
| NM_001256570.1:c.73+6T= | NP_001243499.1:n.73+6T= | |
| NM_001256571.1:c.73+6T= | NP_001243500.1:n.73+6T= | |
| NM_006917.4:c.442+6T= | NP_008848.1:n.442+6T= | |
| NM_006917.5:c.442+6T= MANE Select | NP_008848.1:n.442+6T= | |
| NM_001256571.2:c.73+6T= | NP_001243500.1:n.73+6T= | |
| NM_001256570.2:c.73+6T= | NP_001243499.1:n.73+6T= |