Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30704233G>C , CM000678.2:g.30704233G>C | GRCh38 |
| NC_000016.9:g.30715554G>C , CM000678.1:g.30715554G>C | GRCh37 |
| NC_000016.8:g.30623055G>C | NCBI36 |
| NG_032135.1:g.10093G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.224G>C MANE Select | NP_006653.2:p.Ser75Thr |
| ENST00000262518.9:c.224G>C MANE Select | ENSP00000262518.4:p.Ser75Thr |
| NM_006662.2:c.224G>C | NP_006653.2:p.Ser75Thr |
| ENST00000262518.8:c.224G>C | ENSP00000262518.4:p.Ser75Thr |
| ENST00000380361.7:c.167G>C | ENSP00000369719.3:p.Ser56Thr |
| ENST00000411466.6:c.224G>C | ENSP00000405186.2:p.Ser75Thr |
| ENST00000411466.7:c.224G>C | ENSP00000405186.3:p.Ser75Thr |
| ENST00000706321.1:c.224G>C | ENSP00000516346.1:p.Ser75Thr |