Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47299381G>C , CM000679.2:g.47299381G>C | GRCh38 |
| NC_000017.10:g.45376747G>C , CM000679.1:g.45376747G>C | GRCh37 |
| NC_000017.9:g.42731746G>C | NCBI36 |
| NG_008332.2:g.50540G>C , LRG_481:g.50540G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.1764G>C | ENSP00000513002.1:p.Thr588= | |
| ENST00000559488.7:c.1764G>C MANE Select | ENSP00000452786.2:p.Thr588= | |
| ENST00000559488.5:c.1764G>C | ENSP00000452786.1:p.Thr588= | |
| ENST00000560629.1:c.1729G>C | ||
| NM_000212.2:c.1764G>C , LRG_481t1:c.1764G>C | NP_000203.2:p.Thr588= | |
| NM_000212.3:c.1764G>C MANE Select | NP_000203.2:p.Thr588= |