Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832800C>T , CM000673.2:g.116832800C>T | GRCh38 |
| NC_000011.9:g.116703516C>T , CM000673.1:g.116703516C>T | GRCh37 |
| NC_000011.8:g.116208726C>T | NCBI36 |
| NG_008949.1:g.7893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.216C>T MANE Select | ENSP00000227667.2:p.Asp72= | |
| ENST00000227667.7:c.216C>T | ENSP00000227667.2:p.Asp72= | |
| ENST00000375345.3:c.270C>T | ENSP00000364494.1:p.Asp90= | |
| ENST00000630701.1:c.270C>T | ENSP00000486182.1:p.Asp90= | |
| NM_000040.1:c.216C>T | NP_000031.1:p.Asp72= | |
| NM_000040.2:c.216C>T | NP_000031.1:p.Asp72= | |
| NM_000040.3:c.216C>T MANE Select | NP_000031.1:p.Asp72= |