Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37713401C= , CM000684.2:g.37713401C= | GRCh38 |
| NC_000022.10:g.38109408C= , CM000684.1:g.38109408C= | GRCh37 |
| NC_000022.9:g.36439354C= | NCBI36 |
| NG_012857.1:g.21414C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.446C= MANE Select | ENSP00000496394.1:p.Ser149= | |
| ENST00000344404.10:c.255-2362C= | ENSP00000340312.6:n.255-2362C= | |
| ENST00000406386.7:c.446C= | ENSP00000384312.3:p.Ser149= | |
| ENST00000455236.4:c.1403C= | ENSP00000477208.1:n.1403C= | |
| ENST00000492485.5:n.391-2362C= | ||
| NM_001039141.2:c.446C= | NP_001034230.1:p.Ser149= | |
| NM_001039141.3:c.446C= MANE Select | NP_001034230.1:p.Ser149= |