Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104035461T>C , CM000672.2:g.104035461T>C | GRCh38 |
| NC_000010.10:g.105795219T>C , CM000672.1:g.105795219T>C | GRCh37 |
| NC_000010.9:g.105785209T>C | NCBI36 |
| NG_007069.1:g.55420A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.3508+13A>G MANE Select | NP_000485.3:n.3508+13A>G |
| ENST00000648076.2:c.3508+13A>G MANE Select | ENSP00000497653.1:n.3508+13A>G |
| NM_000494.3:c.3508+13A>G | NP_000485.3:n.3508+13A>G |
| ENST00000353479.9:c.3508+13A>G | ENSP00000340937.5:n.3508+13A>G |
| ENST00000369733.7:c.3373+13A>G | ENSP00000358748.3:n.3373+13A>G |
| ENST00000369733.8:c.3373+13A>G | ENSP00000358748.3:n.3373+13A>G |