Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39507068C>T , CM000681.2:g.39507068C>T | GRCh38 |
| NC_000019.9:g.39997708C>T , CM000681.1:g.39997708C>T | GRCh37 |
| NC_000019.8:g.44689548C>T | NCBI36 |
| NG_008256.1:g.13152C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_203486.3:c.1123C>T MANE Select | NP_982353.1:p.Leu375= |
| ENST00000356433.10:c.1123C>T MANE Select | ENSP00000348810.4:p.Leu375= |
| NM_016941.3:c.1123C>T | NP_058637.1:p.Leu375= |
| NM_016941.4:c.1123C>T | NP_058637.1:p.Leu375= |
| NM_203486.2:c.1123C>T | NP_982353.1:p.Leu375= |
| ENST00000205143.4:c.1123C>T | ENSP00000205143.3:p.Leu375= |
| ENST00000356433.9:c.1123C>T | ENSP00000348810.4:p.Leu375= |
| ENST00000596614.5:c.439C>T | ENSP00000471688.1:p.Leu147= |