Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228118G>C , CM000679.2:g.66228118G>C | GRCh38 |
| NC_000017.10:g.64224236G>C , CM000679.1:g.64224236G>C | GRCh37 |
| NC_000017.9:g.61654698G>C | NCBI36 |
| NG_012045.1:g.6321C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.143C>G MANE Select | ENSP00000205948.6:p.Thr48Arg | |
| ENST00000205948.10:c.143C>G | ENSP00000205948.6:p.Thr48Arg | |
| ENST00000577982.1:c.143C>G | ENSP00000464301.1:p.Thr48Arg | |
| ENST00000581797.5:c.-38C>G | ENSP00000463553.1:n.-38C>G | |
| NM_000042.2:c.143C>G | NP_000033.2:p.Thr48Arg | |
| NM_000042.3:c.143C>G MANE Select | NP_000033.2:p.Thr48Arg |