Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21868458T>G , CM000685.2:g.21868458T>G | GRCh38 |
| NC_000023.10:g.21886576T>G , CM000685.1:g.21886576T>G | GRCh37 |
| NC_000023.9:g.21796497T>G | NCBI36 |
| NG_012797.1:g.33921T>G | |
| NG_012797.2:g.33921T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015884.4:c.671-9T>G MANE Select | NP_056968.1:n.671-9T>G |
| ENST00000379484.10:c.671-9T>G MANE Select | ENSP00000368798.5:n.671-9T>G |
| NM_015884.3:c.671-9T>G | NP_056968.1:n.671-9T>G |
| ENST00000365779.2:c.671-9T>G | ENSP00000368796.1:n.671-9T>G |
| ENST00000379484.9:c.671-9T>G | ENSP00000368798.5:n.671-9T>G |