Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154441739C>T , CM000685.2:g.154441739C>T | GRCh38 |
| NC_000023.10:g.153670086C>T , CM000685.1:g.153670086C>T | GRCh37 |
| NC_000023.9:g.153323280C>T | NCBI36 |
| NG_008954.1:g.9828C>T | |
| NG_013233.1:g.2602C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447750.7:c.936C>T MANE Select | ENSP00000394071.2:p.Asn312= | |
| ENST00000447750.6:c.936C>T | ENSP00000394071.2:p.Asn312= | |
| ENST00000468483.5:n.1216C>T | ||
| ENST00000476540.1:n.662C>T | ||
| ENST00000489589.1:n.731C>T | ||
| ENST00000491154.1:n.2659C>T | ||
| NM_001493.2:c.936C>T | NP_001484.1:p.Asn312= | |
| NM_001493.3:c.936C>T MANE Select | NP_001484.1:p.Asn312= |