Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48443023C>T , CM000681.2:g.48443023C>T | GRCh38 |
| NC_000019.9:g.48946280C>T , CM000681.1:g.48946280C>T | GRCh37 |
| NC_000019.8:g.53638092C>T | NCBI36 |
| NG_046925.1:g.2251C>T | |
| NG_052829.1:g.53149C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000836.4:c.3097C>T MANE Select | NP_000827.2:p.Pro1033Ser |
| ENST00000263269.4:c.3097C>T MANE Select | ENSP00000263269.2:p.Pro1033Ser |
| NM_000836.2:c.3097C>T | NP_000827.2:p.Pro1033Ser |
| ENST00000263269.3:c.3097C>T | ENSP00000263269.2:p.Pro1033Ser |
| XM_011526872.1:c.3097C>T | XP_011525174.1:p.Pro1033Ser |