Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665958C= , CM000679.2:g.39665958C= | GRCh38 |
| NC_000017.10:g.37822211C= , CM000679.1:g.37822211C= | GRCh37 |
| NC_000017.9:g.35075737C= | NCBI36 |
| NG_008892.1:g.5613C= , LRG_210:g.5613C= | |
| NG_042278.1:g.2978C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.353C= MANE Select | ENSP00000312624.2:p.Ala118= | |
| ENST00000309889.2:c.353C= | ENSP00000312624.2:p.Ala118= | |
| ENST00000578283.1:c.281C= | ENSP00000462787.1:p.Ala94= | |
| NM_003673.3:c.353C= , LRG_210t1:c.353C= | NP_003664.1:p.Ala118= | |
| NM_003673.4:c.353C= MANE Select | NP_003664.1:p.Ala118= |