Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986003G>C , CM000678.2:g.1986003G>C | GRCh38 |
| NC_000016.9:g.2036004G>C , CM000678.1:g.2036004G>C | GRCh37 |
| NC_000016.8:g.1976005G>C | NCBI36 |
| NG_016288.1:g.6855G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.368G>C | ENSP00000455885.1:p.Gly123Ala | |
| ENST00000248114.7:c.593G>C MANE Select | ENSP00000248114.6:p.Gly198Ala | |
| ENST00000248114.6:c.593G>C | ENSP00000248114.6:p.Gly198Ala | |
| ENST00000565658.1:n.750G>C | ||
| ENST00000567719.1:c.368G>C | ENSP00000455885.1:p.Gly123Ala | |
| ENST00000569451.1:c.*66G>C | ENSP00000456432.1:n.*66G>C | |
| NM_005262.2:c.593G>C | NP_005253.3:p.Gly198Ala | |
| NM_005262.3:c.593G>C MANE Select | NP_005253.3:p.Gly198Ala |