Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6588688G>C , CM000671.2:g.6588688G>C | GRCh38 |
| NC_000009.11:g.6588688G>C , CM000671.1:g.6588688G>C | GRCh37 |
| NC_000009.10:g.6578688G>C | NCBI36 |
| NG_016397.1:g.62005C>G , LRG_643:g.62005C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.1595C>G MANE Select | NP_000161.2:p.Thr532Arg |
| ENST00000321612.8:c.1595C>G MANE Select | ENSP00000370737.4:p.Thr532Arg |
| NM_000170.2:c.1595C>G , LRG_643t1:c.1595C>G | NP_000161.2:p.Thr532Arg |
| ENST00000321612.6:c.1595C>G | ENSP00000370737.3:p.Thr532Arg |
| ENST00000639364.1:n.1295C>G | |
| ENST00000639443.1:n.1163C>G | |
| ENST00000639954.1:n.1303C>G | |
| ENST00000640592.1:n.1478C>G |