Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39505327C>T , CM000681.2:g.39505327C>T | GRCh38 |
| NC_000019.9:g.39995967C>T , CM000681.1:g.39995967C>T | GRCh37 |
| NC_000019.8:g.44687807C>T | NCBI36 |
| NG_008256.1:g.11411C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_203486.3:c.969C>T MANE Select | NP_982353.1:p.Asn323= |
| ENST00000356433.10:c.969C>T MANE Select | ENSP00000348810.4:p.Asn323= |
| NM_016941.3:c.969C>T | NP_058637.1:p.Asn323= |
| NM_016941.4:c.969C>T | NP_058637.1:p.Asn323= |
| NM_203486.2:c.969C>T | NP_982353.1:p.Asn323= |
| ENST00000205143.4:c.969C>T | ENSP00000205143.3:p.Asn323= |
| ENST00000356433.9:c.969C>T | ENSP00000348810.4:p.Asn323= |
| ENST00000596614.5:c.410-1712C>T | ENSP00000471688.1:n.410-1712C>T |
| ENST00000600437.1:n.1049C>T |