Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88716877G>A , CM000678.2:g.88716877G>A | GRCh38 |
| NC_000016.9:g.88783285G>A , CM000678.1:g.88783285G>A | GRCh37 |
| NC_000016.8:g.87310786G>A | NCBI36 |
| NG_042229.1:g.73344C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142864.4:c.6682C>T MANE Select | NP_001136336.2:p.Gln2228Ter |
| ENST00000301015.14:c.6682C>T MANE Select | ENSP00000301015.9:p.Gln2228Ter |
| NM_001142864.2:c.6682C>T | NP_001136336.2:p.Gln2228Ter |
| NM_001142864.3:c.6682C>T | NP_001136336.2:p.Gln2228Ter |
| ENST00000301015.13:c.6682C>T | ENSP00000301015.9:p.Gln2228Ter |
| ENST00000327397.8:c.286C>T | ENSP00000333704.7:p.Gln96Ter |
| ENST00000419505.5:c.527C>T | ENSP00000406358.1:n.527C>T |
| ENST00000484567.5:n.1318C>T | |
| ENST00000484567.6:n.1741C>T |