Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353184G>T , CM000674.2:g.69353184G>T | GRCh38 |
| NC_000012.11:g.69746964G>T , CM000674.1:g.69746964G>T | GRCh37 |
| NC_000012.10:g.68033231G>T | NCBI36 |
| NG_008195.1:g.9831G>T , LRG_768:g.9831G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.412G>T MANE Select | ENSP00000261267.2:p.Asp138Tyr | |
| ENST00000261267.6:c.412G>T | ENSP00000261267.2:p.Asp138Tyr | |
| ENST00000549690.1:c.333G>T | ENSP00000449898.1:p.Glu111Asp | |
| NM_000239.2:c.412G>T , LRG_768t1:c.412G>T | NP_000230.1:p.Asp138Tyr | |
| NM_000239.3:c.412G>T MANE Select | NP_000230.1:p.Asp138Tyr |