Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102952004C>G , CM000673.2:g.102952004C>G | GRCh38 |
| NC_000011.9:g.102822733C>G , CM000673.1:g.102822733C>G | GRCh37 |
| NC_000011.8:g.102327943C>G | NCBI36 |
| NG_021404.1:g.8731G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260302.8:c.799+8G>C MANE Select | ENSP00000260302.3:n.799+8G>C | |
| ENST00000260302.7:c.799+8G>C | ENSP00000260302.3:n.799+8G>C | |
| ENST00000340273.4:c.799+8G>C | ENSP00000339672.4:n.799+8G>C | |
| ENST00000615555.4:c.799+8G>C | ENSP00000482883.1:n.799+8G>C | |
| NM_002427.3:c.799+8G>C | NP_002418.1:n.799+8G>C | |
| NM_002427.4:c.799+8G>C MANE Select | NP_002418.1:n.799+8G>C |