Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19965531C>T , CM000670.2:g.19965531C>T | GRCh38 |
| NC_000008.10:g.19823042C>T , CM000670.1:g.19823042C>T | GRCh37 |
| NC_000008.9:g.19867322C>T | NCBI36 |
| NG_008855.1:g.31461C>T | |
| NG_008855.2:g.68815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.*221C>T MANE Select | ENSP00000497642.1:n.*221C>T | |
| ENST00000650478.1:c.589C>T | ENSP00000497560.1:n.589C>T | |
| ENST00000311322.8:c.*221C>T | ENSP00000309757.6:n.*221C>T | |
| NM_000237.2:c.*221C>T | NP_000228.1:n.*221C>T | |
| NM_000237.3:c.*221C>T MANE Select | NP_000228.1:n.*221C>T |