Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104077438G>A , CM000672.2:g.104077438G>A | GRCh38 |
| NC_000010.10:g.105837196G>A , CM000672.1:g.105837196G>A | GRCh37 |
| NC_000010.9:g.105827186G>A | NCBI36 |
| NG_007069.1:g.13443C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.186C>T MANE Select | NP_000485.3:p.Ser62= |
| ENST00000648076.2:c.186C>T MANE Select | ENSP00000497653.1:p.Ser62= |
| NM_000494.3:c.186C>T | NP_000485.3:p.Ser62= |
| ENST00000353479.9:c.186C>T | ENSP00000340937.5:p.Ser62= |
| ENST00000369733.7:c.186C>T | ENSP00000358748.3:p.Ser62= |
| ENST00000369733.8:c.186C>T | ENSP00000358748.3:p.Ser62= |
| ENST00000393211.3:c.186C>T | ENSP00000376905.3:p.Ser62= |
| ENST00000483876.1:n.167C>T | |
| ENST00000649118.1:n.301C>T | |
| ENST00000650263.1:c.186C>T | ENSP00000497850.1:p.Ser62= |