Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17849895T>C , CM000672.2:g.17849895T>C | GRCh38 |
| NG_047011.1:g.45553T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000569591.3:c.1249+131T>C MANE Select | ENSP00000455897.1:n.1249+131T>C | |
| ENST00000569591.2:c.1249+131T>C | ENSP00000455897.1:n.1249+131T>C | |
| NM_002438.3:c.1249+131T>C | NP_002429.1:n.1249+131T>C | |
| NM_002438.4:c.1249+131T>C MANE Select | NP_002429.1:n.1249+131T>C |