Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116830819T>C , CM000673.2:g.116830819T>C | GRCh38 |
| NC_000011.9:g.116701535T>C , CM000673.1:g.116701535T>C | GRCh37 |
| NC_000011.8:g.116206745T>C | NCBI36 |
| NG_008949.1:g.5912T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000040.3:c.102T>C MANE Select | NP_000031.1:p.Gly34= |
| ENST00000227667.8:c.102T>C MANE Select | ENSP00000227667.2:p.Gly34= |
| NM_000040.1:c.102T>C | NP_000031.1:p.Gly34= |
| NM_000040.2:c.102T>C | NP_000031.1:p.Gly34= |
| ENST00000227667.7:c.102T>C | ENSP00000227667.2:p.Gly34= |
| ENST00000375345.3:c.156T>C | ENSP00000364494.1:p.Gly52= |
| ENST00000433777.5:c.102T>C | ENSP00000410614.1:p.Gly34= |
| ENST00000470144.1:n.134T>C | |
| ENST00000630701.1:c.156T>C | ENSP00000486182.1:p.Gly52= |