Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986048C>T , CM000678.2:g.1986048C>T | GRCh38 |
| NC_000016.9:g.2036049C>T , CM000678.1:g.2036049C>T | GRCh37 |
| NC_000016.8:g.1976050C>T | NCBI36 |
| NG_016288.1:g.6900C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.*20C>T | ENSP00000455885.1:n.*20C>T | |
| ENST00000248114.7:c.*20C>T MANE Select | ENSP00000248114.6:n.*20C>T | |
| ENST00000248114.6:c.*20C>T | ENSP00000248114.6:n.*20C>T | |
| ENST00000565658.1:n.795C>T | ||
| ENST00000567719.1:c.*20C>T | ENSP00000455885.1:n.*20C>T | |
| ENST00000569451.1:c.*111C>T | ENSP00000456432.1:n.*111C>T | |
| NM_005262.2:c.*20C>T | NP_005253.3:n.*20C>T | |
| NM_005262.3:c.*20C>T MANE Select | NP_005253.3:n.*20C>T |