Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104064523C>G , CM000672.2:g.104064523C>G | GRCh38 |
| NC_000010.10:g.105824281C>G , CM000672.1:g.105824281C>G | GRCh37 |
| NC_000010.9:g.105814271C>G | NCBI36 |
| NG_007069.1:g.26358G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.681G>C MANE Select | NP_000485.3:p.Ala227= |
| ENST00000648076.2:c.681G>C MANE Select | ENSP00000497653.1:p.Ala227= |
| NM_000494.3:c.681G>C | NP_000485.3:p.Ala227= |
| ENST00000353479.9:c.681G>C | ENSP00000340937.5:p.Ala227= |
| ENST00000369733.7:c.681G>C | ENSP00000358748.3:p.Ala227= |
| ENST00000369733.8:c.681G>C | ENSP00000358748.3:p.Ala227= |
| ENST00000393211.3:c.681G>C | ENSP00000376905.3:p.Ala227= |
| ENST00000488320.1:n.26G>C | |
| ENST00000649118.1:n.796G>C | |
| ENST00000650263.1:c.633G>C | ENSP00000497850.1:p.Ala211= |