Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84013110A>G , CM000678.2:g.84013110A>G | GRCh38 |
| NC_000016.9:g.84046715A>G , CM000678.1:g.84046715A>G | GRCh37 |
| NC_000016.8:g.82604216A>G | NCBI36 |
| NG_034136.1:g.34048T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080442.3:c.1163-58T>C MANE Select | NP_001073911.1:n.1163-58T>C |
| ENST00000299709.8:c.1163-58T>C MANE Select | ENSP00000299709.3:n.1163-58T>C |
| NM_001080442.2:c.1163-58T>C | NP_001073911.1:n.1163-58T>C |
| ENST00000299709.7:c.1163-58T>C | ENSP00000299709.3:n.1163-58T>C |
| ENST00000568003.1:n.239-58T>C | |
| XM_011522872.1:c.1163-58T>C | XP_011521174.1:n.1163-58T>C |
| XM_017022946.1:c.1163-58T>C | XP_016878435.1:n.1163-58T>C |