Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47573042G>A , CM000685.2:g.47573042G>A | GRCh38 |
| NC_000023.10:g.47432441G>A , CM000685.1:g.47432441G>A | GRCh37 |
| NC_000023.9:g.47317385G>A | NCBI36 |
| NG_008437.1:g.51816C>T | |
| NG_016339.1:g.16926G>A | |
| NG_016339.2:g.16926G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1983-43C>T MANE Select | ENSP00000295987.7:n.1983-43C>T | |
| ENST00000340666.5:c.1983-81C>T | ENSP00000343206.4:n.1983-81C>T | |
| ENST00000640721.1:c.71-81C>T | ENSP00000492857.1:n.71-81C>T | |
| ENST00000295987.11:c.1983-43C>T | ENSP00000295987.7:n.1983-43C>T | |
| ENST00000340666.4:c.1983-81C>T | ENSP00000343206.4:n.1983-81C>T | |
| NM_006950.3:c.1983-43C>T MANE Select | NP_008881.2:n.1983-43C>T | |
| NM_133499.2:c.1983-81C>T | NP_598006.1:n.1983-81C>T |