Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061898C>A , CM000665.2:g.129061898C>A | GRCh38 |
| NC_000003.11:g.128780741C>A , CM000665.1:g.128780741C>A | GRCh37 |
| NC_000003.10:g.130263431C>A | NCBI36 |
| NG_008715.1:g.6097C>A , LRG_477:g.6097C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.159C>A MANE Select | ENSP00000303942.4:p.Thr53= | |
| ENST00000307395.4:c.159C>A | ENSP00000303942.4:p.Thr53= | |
| NM_000174.4:c.159C>A , LRG_477t1:c.159C>A | NP_000165.1:p.Thr53= | |
| XM_005247374.3:c.159C>A | XP_005247431.1:p.Thr53= | |
| XM_011512701.1:c.159C>A | XP_011511003.1:p.Thr53= | |
| XM_011512702.1:c.159C>A | XP_011511004.1:p.Thr53= | |
| NM_000174.5:c.159C>A MANE Select | NP_000165.1:p.Thr53= |