Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10756840T>C , CM000673.2:g.10756840T>C | GRCh38 |
| NC_000011.9:g.10778387T>C , CM000673.1:g.10778387T>C | GRCh37 |
| NC_000011.8:g.10734963T>C | NCBI36 |
| NG_051671.1:g.10854T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014633.5:c.592+2T>C MANE Select | NP_055448.1:n.592+2T>C |
| ENST00000361367.7:c.592+2T>C MANE Select | ENSP00000355013.2:n.592+2T>C |
| NM_001346279.1:c.592+2T>C | NP_001333208.1:n.592+2T>C |
| NM_001346279.2:c.592+2T>C | NP_001333208.1:n.592+2T>C |
| NM_014633.4:c.592+2T>C | NP_055448.1:n.592+2T>C |
| ENST00000361367.6:c.592+2T>C | ENSP00000355013.2:n.592+2T>C |
| ENST00000524523.1:c.553+2T>C | ENSP00000431458.1:n.553+2T>C |