Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73408749T>C , CM000664.2:g.73408749T>C | GRCh38 |
| NC_000002.11:g.73635877T>C , CM000664.1:g.73635877T>C | GRCh37 |
| NC_000002.10:g.73489385T>C | NCBI36 |
| NG_011690.1:g.27995T>C , LRG_741:g.27995T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378454.1:c.450+2T>C MANE Select | NP_001365383.1:n.450+2T>C |
| ENST00000613296.6:c.450+2T>C MANE Select | ENSP00000482968.1:n.450+2T>C |
| NM_015120.4:c.453+2T>C , LRG_741t1:c.453+2T>C | NP_055935.4:n.453+2T>C |
| ENST00000484298.5:c.325-10374T>C | ENSP00000478155.1:n.325-10374T>C |
| ENST00000613296.4:c.450+2T>C | ENSP00000482968.1:n.450+2T>C |
| ENST00000614410.4:c.450+2T>C | ENSP00000479094.1:n.450+2T>C |
| ENST00000682675.1:n.410+2T>C | |
| ENST00000682889.1:n.415+2T>C | |
| ENST00000684148.1:n.197-10374T>C |