Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48525803C>T , CM000674.2:g.48525803C>T | GRCh38 |
| NC_000012.11:g.48919586C>T , CM000674.1:g.48919586C>T | GRCh37 |
| NC_000012.10:g.47205853C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001390849.1:c.172C>T MANE Select | NP_001377778.1:p.Pro58Ser |
| ENST00000641651.1:c.172C>T MANE Select | ENSP00000493379.1:p.Pro58Ser |
| NM_001005203.2:c.172C>T | NP_001005203.2:p.Pro58Ser |
| ENST00000310194.1:c.172C>T | ENSP00000310632.1:p.Pro58Ser |
| ENST00000551654.1:n.184-2069C>T |