Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63126688T>A , CM000680.2:g.63126688T>A | GRCh38 |
| NC_000018.9:g.60793921T>A , CM000680.1:g.60793921T>A | GRCh37 |
| NC_000018.8:g.58944901T>A | NCBI36 |
| NG_009361.1:g.197693A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000633.3:c.*1937A>T MANE Select | NP_000624.2:n.*1937A>T |
| ENST00000333681.5:c.*1937A>T MANE Select | ENSP00000329623.3:n.*1937A>T |
| NM_000633.2:c.*1937A>T | NP_000624.2:n.*1937A>T |
| ENST00000398117.1:c.*1937A>T | ENSP00000381185.1:n.*1937A>T |
| ENST00000677635.1:n.2221A>T | |
| ENST00000678134.1:c.2861A>T | ENSP00000503628.1:n.2861A>T |
| ENST00000678301.1:c.*1937A>T | ENSP00000504546.1:n.*1937A>T |
| ENST00000678349.1:c.3209A>T | ENSP00000504190.1:n.3209A>T |