Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.770553C>T , CM000669.2:g.770553C>T | GRCh38 |
| NC_000007.13:g.810190C>T , CM000669.1:g.810190C>T | GRCh37 |
| NC_000007.12:g.776716C>T | NCBI36 |
| NG_033137.1:g.48853C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017802.4:c.1866C>T MANE Select | NP_060272.3:p.Arg622= |
| ENST00000297440.11:c.1866C>T MANE Select | ENSP00000297440.6:p.Arg622= |
| NM_017802.3:c.1866C>T | NP_060272.3:p.Arg622= |
| NR_075098.1:n.1824C>T | |
| NR_075098.2:n.1826C>T | |
| ENST00000297440.10:c.1866C>T | ENSP00000297440.6:p.Arg622= |
| ENST00000403952.3:c.141C>T | ENSP00000384884.3:p.Arg47= |
| ENST00000440747.5:c.1270C>T | |
| ENST00000491496.1:n.151C>T | |
| XM_024446813.1:c.1866C>T | XP_024302581.1:p.Arg622= |
| XM_024446814.1:c.1260C>T | XP_024302582.1:p.Arg420= |