Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733463C>T , CM000679.2:g.47733463C>T | GRCh38 |
| NC_000017.10:g.45810829C>T , CM000679.1:g.45810829C>T | GRCh37 |
| NC_000017.9:g.43165828C>T | NCBI36 |
| NG_012166.1:g.5220C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000177694.2:c.9C>T MANE Select | ENSP00000177694.1:p.Ile3= | |
| ENST00000177694.1:c.9C>T | ENSP00000177694.1:p.Ile3= | |
| ENST00000581328.1:n.39C>T | ||
| NM_013351.1:c.9C>T | NP_037483.1:p.Ile3= | |
| XM_011524698.1:c.9C>T | XP_011523000.1:p.Ile3= | |
| NM_013351.2:c.9C>T MANE Select | NP_037483.1:p.Ile3= |