Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951767A>C , CM000670.2:g.19951767A>C | GRCh38 |
| NC_000008.10:g.19809278A>C , CM000670.1:g.19809278A>C | GRCh37 |
| NC_000008.9:g.19853558A>C | NCBI36 |
| NG_008855.1:g.17697A>C | |
| NG_008855.2:g.55051A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.250-2A>C MANE Select | ENSP00000497642.1:n.250-2A>C | |
| ENST00000311322.8:c.250-2A>C | ENSP00000309757.6:n.250-2A>C | |
| ENST00000520959.5:c.22-2A>C | ENSP00000428496.1:n.22-2A>C | |
| ENST00000521994.1:n.505A>C | ||
| ENST00000522701.5:c.250-2A>C | ENSP00000428557.1:n.250-2A>C | |
| ENST00000524029.5:c.250-2A>C | ENSP00000428237.1:n.250-2A>C | |
| NM_000237.2:c.250-2A>C | NP_000228.1:n.250-2A>C | |
| NM_000237.3:c.250-2A>C MANE Select | NP_000228.1:n.250-2A>C |