Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104055767C>T , CM000672.2:g.104055767C>T | GRCh38 |
| NC_000010.10:g.105815525C>T , CM000672.1:g.105815525C>T | GRCh37 |
| NC_000010.9:g.105805515C>T | NCBI36 |
| NG_007069.1:g.35114G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.1687+15G>A MANE Select | NP_000485.3:n.1687+15G>A |
| ENST00000648076.2:c.1687+15G>A MANE Select | ENSP00000497653.1:n.1687+15G>A |
| NM_000494.3:c.1687+15G>A | NP_000485.3:n.1687+15G>A |
| ENST00000353479.9:c.1687+15G>A | ENSP00000340937.5:n.1687+15G>A |
| ENST00000369733.7:c.1687+15G>A | ENSP00000358748.3:n.1687+15G>A |
| ENST00000369733.8:c.1687+15G>A | ENSP00000358748.3:n.1687+15G>A |
| ENST00000480127.1:n.194+15G>A | |
| ENST00000480127.2:n.188+15G>A | |
| ENST00000650263.1:c.1639+15G>A | ENSP00000497850.1:n.1639+15G>A |