Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104074194C>T , CM000672.2:g.104074194C>T | GRCh38 |
| NC_000010.10:g.105833952C>T , CM000672.1:g.105833952C>T | GRCh37 |
| NC_000010.9:g.105823942C>T | NCBI36 |
| NG_007069.1:g.16687G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.369G>A MANE Select | NP_000485.3:p.Arg123= |
| ENST00000648076.2:c.369G>A MANE Select | ENSP00000497653.1:p.Arg123= |
| NM_000494.3:c.369G>A | NP_000485.3:p.Arg123= |
| ENST00000353479.9:c.369G>A | ENSP00000340937.5:p.Arg123= |
| ENST00000369733.7:c.369G>A | ENSP00000358748.3:p.Arg123= |
| ENST00000369733.8:c.369G>A | ENSP00000358748.3:p.Arg123= |
| ENST00000393211.3:c.369G>A | ENSP00000376905.3:p.Arg123= |
| ENST00000483876.1:n.350G>A | |
| ENST00000649118.1:n.484G>A | |
| ENST00000650263.1:c.332-949G>A | ENSP00000497850.1:n.332-949G>A |