Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004883G>C , CM000685.2:g.25004883G>C | GRCh38 |
| NC_000023.10:g.25023000G>C , CM000685.1:g.25023000G>C | GRCh37 |
| NC_000023.9:g.24932921G>C | NCBI36 |
| NG_008281.1:g.16066C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1476C>G MANE Select | ENSP00000368332.4:p.Thr492= | |
| ENST00000636885.1:n.64C>G | ||
| ENST00000379044.4:c.1476C>G | ENSP00000368332.4:p.Thr492= | |
| NM_139058.2:c.1476C>G | NP_620689.1:p.Thr492= | |
| NM_139058.3:c.1476C>G MANE Select | NP_620689.1:p.Thr492= |