Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21842641C= , CM000669.2:g.21842641C= | GRCh38 |
| NC_000007.13:g.21882259C= , CM000669.1:g.21882259C= | GRCh37 |
| NC_000007.12:g.21848784C= | NCBI36 |
| NG_012886.2:g.304427C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.10789C= MANE Select | NP_001264044.1:p.Gln3597= |
| ENST00000409508.8:c.10789C= MANE Select | ENSP00000475939.1:p.Gln3597= |
| NM_001277115.1:c.10789C= | NP_001264044.1:p.Gln3597= |
| ENST00000328843.10:c.10810C= | ENSP00000330671.7:p.Gln3604= |
| ENST00000409508.7:c.10789C= | ENSP00000475939.1:p.Gln3597= |
| ENST00000620169.4:c.10810C= | ENSP00000481693.1:p.Gln3604= |