Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9890811G>C , CM000665.2:g.9890811G>C | GRCh38 |
| NC_000003.11:g.9932495G>C , CM000665.1:g.9932495G>C | GRCh37 |
| NC_000003.10:g.9907495G>C | NCBI36 |
| NG_041779.1:g.5225G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489724.2:c.89G>C | ENSP00000497724.1:p.Arg30Thr | |
| ENST00000647897.1:c.89G>C MANE Select | ENSP00000496942.1:p.Ser30Thr | |
| ENST00000307768.4:c.89G>C | ENSP00000306106.4:p.Ser30Thr | |
| ENST00000489724.1:n.179G>C | ||
| ENST00000616966.2:c.89G>C | ENSP00000481606.1:p.Ser30Thr | |
| NM_032492.3:c.89G>C | NP_115881.3:p.Ser30Thr | |
| NM_001363890.1:c.-180G>C | NP_001350819.1:n.-180G>C | |
| NM_032492.4:c.89G>C MANE Select | NP_115881.3:p.Ser30Thr |