Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26599532G>A , CM000684.2:g.26599532G>A | GRCh38 |
| NC_000022.10:g.26995496G>A , CM000684.1:g.26995496G>A | GRCh37 |
| NC_000022.9:g.25325496G>A | NCBI36 |
| NG_009826.1:g.23496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647684.1:c.717C>T MANE Select | ENSP00000497249.1:p.Leu239= | |
| ENST00000215939.2:c.717C>T | ENSP00000215939.2:p.Leu239= | |
| NM_001887.3:c.717C>T | NP_001878.1:p.Leu239= | |
| XM_011529899.1:c.717C>T | XP_011528201.1:p.Leu239= | |
| NM_001887.4:c.717C>T MANE Select | NP_001878.1:p.Leu239= | |
| XM_011529899.3:c.717C>T | XP_011528201.1:p.Leu239= |