Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013705A>G , CM000685.2:g.25013705A>G | GRCh38 |
| NC_000023.10:g.25031822A>G , CM000685.1:g.25031822A>G | GRCh37 |
| NC_000023.9:g.24941743A>G | NCBI36 |
| NG_008281.1:g.7244T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.290T>C MANE Select | ENSP00000368332.4:p.Leu97Pro | |
| ENST00000379044.4:c.290T>C | ENSP00000368332.4:p.Leu97Pro | |
| NM_139058.2:c.290T>C | NP_620689.1:p.Leu97Pro | |
| NM_139058.3:c.290T>C MANE Select | NP_620689.1:p.Leu97Pro |