Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6604591G>C , CM000671.2:g.6604591G>C | GRCh38 |
| NC_000009.11:g.6604591G>C , CM000671.1:g.6604591G>C | GRCh37 |
| NC_000009.10:g.6594591G>C | NCBI36 |
| NG_016397.1:g.46102C>G , LRG_643:g.46102C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1055C>G MANE Select | ENSP00000370737.4:p.Thr352Arg | |
| ENST00000638654.1:c.302C>G | ENSP00000491101.1:p.Thr101Arg | |
| ENST00000639364.1:n.755C>G | ||
| ENST00000639443.1:n.623C>G | ||
| ENST00000639493.1:n.207C>G | ||
| ENST00000639954.1:n.763C>G | ||
| ENST00000640592.1:n.938C>G | ||
| ENST00000321612.6:c.1055C>G | ENSP00000370737.3:p.Thr352Arg | |
| ENST00000463305.1:n.142+540C>G | ||
| NM_000170.2:c.1055C>G , LRG_643t1:c.1055C>G | NP_000161.2:p.Thr352Arg | |
| NM_000170.3:c.1055C>G MANE Select | NP_000161.2:p.Thr352Arg |