Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104060114C= , CM000672.2:g.104060114C= | GRCh38 |
| NC_000010.10:g.105819872C= , CM000672.1:g.105819872C= | GRCh37 |
| NC_000010.9:g.105809862C= | NCBI36 |
| NG_007069.1:g.30767G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.1141+5G= MANE Select | NP_000485.3:n.1141+5G= |
| ENST00000648076.2:c.1141+5G= MANE Select | ENSP00000497653.1:n.1141+5G= |
| NM_000494.3:c.1141+5G= | NP_000485.3:n.1141+5G= |
| ENST00000353479.9:c.1141+5G= | ENSP00000340937.5:n.1141+5G= |
| ENST00000369733.7:c.1141+5G= | ENSP00000358748.3:n.1141+5G= |
| ENST00000369733.8:c.1141+5G= | ENSP00000358748.3:n.1141+5G= |
| ENST00000393211.3:c.1141+5G= | ENSP00000376905.3:n.1141+5G= |
| ENST00000488320.1:n.592+5G= | |
| ENST00000650263.1:c.1093+5G= | ENSP00000497850.1:n.1093+5G= |