Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48875919C>T , CM000681.2:g.48875919C>T | GRCh38 |
| NC_000019.9:g.49379176C>T , CM000681.1:g.49379176C>T | GRCh37 |
| NC_000019.8:g.54070988C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600406.2:c.*826C>T | ENSP00000469239.2:n.*826C>T | |
| ENST00000704026.1:c.1686C>T | ENSP00000515636.1:p.Ser562= | |
| ENST00000704027.1:c.2019C>T | ENSP00000515637.1:p.Ser673= | |
| ENST00000200453.6:c.1971C>T MANE Select | ENSP00000200453.4:p.Ser657= | |
| ENST00000200453.5:c.1971C>T | ENSP00000200453.4:p.Ser657= | |
| ENST00000600406.1:c.1602C>T | ||
| NM_014330.3:c.1971C>T | NP_055145.3:p.Ser657= | |
| NM_014330.5:c.1971C>T MANE Select | NP_055145.3:p.Ser657= |