Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121854702C>G , CM000674.2:g.121854702C>G | GRCh38 |
| NC_000012.11:g.122292608C>G , CM000674.1:g.122292608C>G | GRCh37 |
| NC_000012.10:g.120776991C>G | NCBI36 |
| NG_016461.1:g.38910G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.414+1G>C MANE Select | NP_002141.2:n.414+1G>C |
| ENST00000289004.8:c.414+1G>C MANE Select | ENSP00000289004.4:n.414+1G>C |
| NM_001171993.1:c.297+1G>C | NP_001165464.1:n.297+1G>C |
| NM_001171993.2:c.297+1G>C | NP_001165464.1:n.297+1G>C |
| NM_002150.2:c.414+1G>C | NP_002141.1:n.414+1G>C |
| ENST00000542159.2:n.450+1G>C | |
| ENST00000543163.5:c.297+1G>C | ENSP00000441677.1:n.297+1G>C |