Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43937265C>T , CM000684.2:g.43937265C>T | GRCh38 |
| NC_000022.10:g.44333145C>T , CM000684.1:g.44333145C>T | GRCh37 |
| NC_000022.9:g.42664478C>T | NCBI36 |
| NG_008631.1:g.18527C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025225.3:c.972C>T MANE Select | NP_079501.2:p.Leu324= |
| ENST00000216180.8:c.972C>T MANE Select | ENSP00000216180.3:p.Leu324= |
| NM_025225.2:c.972C>T | NP_079501.2:p.Leu324= |
| ENST00000216180.7:c.972C>T | ENSP00000216180.3:p.Leu324= |
| ENST00000406117.6:c.*604C>T | ENSP00000384668.2:n.*604C>T |
| ENST00000423180.2:c.960C>T | ENSP00000397987.2:p.Leu320= |
| ENST00000497129.1:n.357C>T |