Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104064445C>T , CM000672.2:g.104064445C>T | GRCh38 |
| NC_000010.10:g.105824203C>T , CM000672.1:g.105824203C>T | GRCh37 |
| NC_000010.9:g.105814193C>T | NCBI36 |
| NG_007069.1:g.26436G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.759G>A MANE Select | NP_000485.3:p.Ala253= |
| ENST00000648076.2:c.759G>A MANE Select | ENSP00000497653.1:p.Ala253= |
| NM_000494.3:c.759G>A | NP_000485.3:p.Ala253= |
| ENST00000353479.9:c.759G>A | ENSP00000340937.5:p.Ala253= |
| ENST00000369733.7:c.759G>A | ENSP00000358748.3:p.Ala253= |
| ENST00000369733.8:c.759G>A | ENSP00000358748.3:p.Ala253= |
| ENST00000393211.3:c.759G>A | ENSP00000376905.3:p.Ala253= |
| ENST00000488320.1:n.104G>A | |
| ENST00000649118.1:n.874G>A | |
| ENST00000650263.1:c.711G>A | ENSP00000497850.1:p.Ala237= |