Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034613G= , CM000672.2:g.104034613G= | GRCh38 |
| NC_000010.10:g.105794371G= , CM000672.1:g.105794371G= | GRCh37 |
| NC_000010.9:g.105784361G= | NCBI36 |
| NG_007069.1:g.56268C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369733.8:c.3520+8C= | ENSP00000358748.3:n.3520+8C= | |
| ENST00000648076.2:c.3766+8C= MANE Select | ENSP00000497653.1:n.3766+8C= | |
| ENST00000353479.9:c.3766+8C= | ENSP00000340937.5:n.3766+8C= | |
| ENST00000369733.7:c.3520+8C= | ENSP00000358748.3:n.3520+8C= | |
| NM_000494.3:c.3766+8C= | NP_000485.3:n.3766+8C= | |
| NM_000494.4:c.3766+8C= MANE Select | NP_000485.3:n.3766+8C= |