Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39507341T>C , CM000681.2:g.39507341T>C | GRCh38 |
| NC_000019.9:g.39997981T>C , CM000681.1:g.39997981T>C | GRCh37 |
| NC_000019.8:g.44689821T>C | NCBI36 |
| NG_008256.1:g.13425T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_203486.3:c.1396T>C MANE Select | NP_982353.1:p.Phe466Leu |
| ENST00000356433.10:c.1396T>C MANE Select | ENSP00000348810.4:p.Phe466Leu |
| NM_016941.3:c.1396T>C | NP_058637.1:p.Phe466Leu |
| NM_016941.4:c.1396T>C | NP_058637.1:p.Phe466Leu |
| NM_203486.2:c.1396T>C | NP_982353.1:p.Phe466Leu |
| ENST00000205143.4:c.1396T>C | ENSP00000205143.3:p.Phe466Leu |
| ENST00000356433.9:c.1396T>C | ENSP00000348810.4:p.Phe466Leu |