Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56983483T= , CM000678.2:g.56983483T= | GRCh38 |
| NC_000016.9:g.57017395T= , CM000678.1:g.57017395T= | GRCh37 |
| NC_000016.8:g.55574896T= | NCBI36 |
| NG_008952.1:g.26561T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200676.8:c.1407+72T= MANE Select | ENSP00000200676.3:n.1407+72T= | |
| ENST00000200676.7:c.1407+72T= | ENSP00000200676.3:n.1407+72T= | |
| ENST00000379780.6:c.1227+72T= | ENSP00000369106.2:n.1227+72T= | |
| ENST00000566128.1:c.1212+72T= | ENSP00000456276.1:n.1212+72T= | |
| NM_000078.2:c.1407+72T= | NP_000069.2:n.1407+72T= | |
| NM_001286085.1:c.1227+72T= | NP_001273014.1:n.1227+72T= | |
| NM_000078.3:c.1407+72T= MANE Select | NP_000069.2:n.1407+72T= | |
| NM_001286085.2:c.1227+72T= | NP_001273014.1:n.1227+72T= |