Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55096431A= , CM000666.2:g.55096431A= | GRCh38 |
| NC_000004.11:g.55962598A= , CM000666.1:g.55962598A= | GRCh37 |
| NC_000004.10:g.55657355A= | NCBI36 |
| NG_012004.1:g.34165T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.2615-89T= MANE Select | ENSP00000263923.4:n.2615-89T= | |
| ENST00000647068.1:n.2628-89T= | ||
| ENST00000263923.4:c.2615-89T= | ENSP00000263923.4:n.2615-89T= | |
| ENST00000509309.1:n.290T= | ||
| NM_002253.2:c.2615-89T= | NP_002244.1:n.2615-89T= | |
| NM_002253.3:c.2615-89T= | NP_002244.1:n.2615-89T= | |
| NM_002253.4:c.2615-89T= MANE Select | NP_002244.1:n.2615-89T= |