Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3582229G>A , CM000678.2:g.3582229G>A | GRCh38 |
| NC_000016.9:g.3632230G>A , CM000678.1:g.3632230G>A | GRCh37 |
| NC_000016.8:g.3572231G>A | NCBI36 |
| NG_028123.1:g.34356C>T , LRG_503:g.34356C>T | |
| NG_033123.1:g.163C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032444.4:c.*113C>T MANE Select | NP_115820.2:n.*113C>T |
| ENST00000294008.4:c.*113C>T MANE Select | ENSP00000294008.3:n.*113C>T |
| NM_032444.2:c.*113C>T , LRG_503t1:c.*113C>T | NP_115820.2:n.*113C>T |
| NM_032444.3:c.*113C>T | NP_115820.2:n.*113C>T |
| ENST00000294008.3:c.*113C>T | ENSP00000294008.3:n.*113C>T |
| XM_011522715.1:c.*113C>T | XP_011521017.1:n.*113C>T |
| XM_011522715.3:c.*113C>T | XP_011521017.1:n.*113C>T |
| XM_017023775.2:c.*113C>T | XP_016879264.1:n.*113C>T |
| XM_024450471.1:c.*113C>T | XP_024306239.1:n.*113C>T |