Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.8867956G>A , CM000666.2:g.8867956G>A | GRCh38 |
| NC_000004.11:g.8869682G>A , CM000666.1:g.8869682G>A | GRCh37 |
| NG_013062.1:g.8862C>T | |
| NG_013062.2:g.8862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400677.5:c.784C>T MANE Select | ENSP00000383516.3:p.Leu262= | |
| ENST00000400677.4:c.784C>T | ENSP00000383516.3:p.Leu262= | |
| ENST00000506970.2:c.394+3265C>T | ENSP00000446997.2:n.394+3265C>T | |
| ENST00000617742.1:c.775C>T | ENSP00000479086.1:p.Leu259= | |
| NM_001306142.1:c.394+3265C>T | NP_001293071.1:n.394+3265C>T | |
| NM_018942.2:c.784C>T | NP_061815.2:p.Leu262= | |
| NM_018942.3:c.784C>T MANE Select | NP_061815.2:p.Leu262= | |
| NM_001306142.2:c.394+3265C>T | NP_001293071.1:n.394+3265C>T |