Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76006220G>C , CM000666.2:g.76006220G>C | GRCh38 |
| NC_000004.11:g.76927373G>C , CM000666.1:g.76927373G>C | GRCh37 |
| NC_000004.10:g.77146397G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264888.6:c.119C>G MANE Select | ENSP00000354901.4:p.Thr40Ser | |
| ENST00000264888.5:c.119C>G | ENSP00000354901.4:p.Thr40Ser | |
| NM_002416.2:c.119C>G | NP_002407.1:p.Thr40Ser | |
| NM_002416.3:c.119C>G MANE Select | NP_002407.1:p.Thr40Ser |