Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23644568A>G , CM000677.2:g.23644568A>G | GRCh38 |
| NC_000015.9:g.23889715A>G , CM000677.1:g.23889715A>G | GRCh37 |
| NC_000015.8:g.21440808A>G | NCBI36 |
| NG_016776.1:g.8279T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650528.1:c.3175T>C MANE Select | ENSP00000497810.1:p.Leu1059= | |
| ENST00000532292.2:c.3175T>C | ENSP00000433433.2:p.Leu1059= | |
| NM_019066.4:c.3175T>C | NP_061939.3:p.Leu1059= | |
| NM_019066.5:c.3175T>C MANE Select | NP_061939.3:p.Leu1059= |