Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119870754A>G , CM000685.2:g.119870754A>G | GRCh38 |
| NC_000023.10:g.119004717A>G , CM000685.1:g.119004717A>G | GRCh37 |
| NC_000023.9:g.118888745A>G | NCBI36 |
| NG_009381.1:g.3984A>G | |
| NG_021227.1:g.6075T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006978.3:c.860T>C MANE Select | NP_008909.1:p.Leu287Pro |
| ENST00000371442.4:c.860T>C MANE Select | ENSP00000360497.2:p.Leu287Pro |
| NM_006978.2:c.860T>C | NP_008909.1:p.Leu287Pro |
| ENST00000371442.3:c.860T>C | ENSP00000360497.2:p.Leu287Pro |