Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61865632T>G , CM000673.2:g.61865632T>G | GRCh38 |
| NC_000011.9:g.61633104T>G , CM000673.1:g.61633104T>G | GRCh37 |
| NC_000011.8:g.61389680T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278840.9:c.1284-6T>G MANE Select | ENSP00000278840.4:n.1284-6T>G | |
| ENST00000257261.10:c.1218-6T>G | ENSP00000257261.6:n.1218-6T>G | |
| ENST00000278840.8:c.1284-6T>G | ENSP00000278840.4:n.1284-6T>G | |
| ENST00000522056.5:c.1191-6T>G | ENSP00000429500.1:n.1191-6T>G | |
| ENST00000523235.5:n.3364-6T>G | ||
| NM_001281501.1:c.1218-6T>G | NP_001268430.1:n.1218-6T>G | |
| NM_001281502.1:c.1191-6T>G | NP_001268431.1:n.1191-6T>G | |
| NM_004265.3:c.1284-6T>G | NP_004256.1:n.1284-6T>G | |
| NM_004265.4:c.1284-6T>G MANE Select | NP_004256.1:n.1284-6T>G |