Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74716421G>A , CM000678.2:g.74716421G>A | GRCh38 |
| NC_000016.9:g.74750319G>A , CM000678.1:g.74750319G>A | GRCh37 |
| NC_000016.8:g.73307820G>A | NCBI36 |
| NG_017070.1:g.63411C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024306.5:c.965C>T MANE Select | NP_077282.3:p.Ser322Leu |
| ENST00000219368.8:c.965C>T MANE Select | ENSP00000219368.3:p.Ser322Leu |
| NM_024306.4:c.965C>T | NP_077282.3:p.Ser322Leu |
| ENST00000219368.7:c.965C>T | ENSP00000219368.3:p.Ser322Leu |
| ENST00000562145.1:n.686C>T | |
| ENST00000567683.5:c.*244C>T | ENSP00000455126.1:n.*244C>T |
| XM_011523319.1:c.725C>T | XP_011521621.1:p.Ser242Leu |
| XM_011523319.2:c.725C>T | XP_011521621.1:p.Ser242Leu |