Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812423T>C , CM000664.2:g.218812423T>C | GRCh38 |
| NC_000002.11:g.219677146T>C , CM000664.1:g.219677146T>C | GRCh37 |
| NC_000002.10:g.219385390T>C | NCBI36 |
| NG_007959.1:g.35675T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.646+2T>C MANE Select | NP_000775.1:n.646+2T>C |
| ENST00000258415.9:c.646+2T>C MANE Select | ENSP00000258415.4:n.646+2T>C |
| NM_000784.3:c.646+2T>C | NP_000775.1:n.646+2T>C |
| ENST00000258415.8:c.646+2T>C | ENSP00000258415.4:n.646+2T>C |
| ENST00000411688.1:c.364+2T>C | ENSP00000392671.1:n.364+2T>C |
| ENST00000445971.1:c.*107+2T>C | ENSP00000404945.1:n.*107+2T>C |
| ENST00000466602.1:n.466T>C | |
| ENST00000494263.5:n.1080+2T>C | |
| XM_017003488.2:c.226+2T>C | XP_016858977.1:n.226+2T>C |