Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88727144G= , CM000678.2:g.88727144G= | GRCh38 |
| NC_000016.9:g.88793552G= , CM000678.1:g.88793552G= | GRCh37 |
| NC_000016.8:g.87321053G= | NCBI36 |
| NG_042229.1:g.63077C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142864.4:c.3350C= MANE Select | NP_001136336.2:p.Ser1117= |
| ENST00000301015.14:c.3350C= MANE Select | ENSP00000301015.9:p.Ser1117= |
| NM_001142864.2:c.3350C= | NP_001136336.2:p.Ser1117= |
| NM_001142864.3:c.3350C= | NP_001136336.2:p.Ser1117= |
| ENST00000301015.13:c.3350C= | ENSP00000301015.9:p.Ser1117= |
| ENST00000491917.1:n.336C= | |
| ENST00000491917.2:n.336C= |