Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.27815068C>T , CM000668.2:g.27815068C>T | GRCh38 |
| NC_000006.11:g.27782846C>T , CM000668.1:g.27782846C>T | GRCh37 |
| NC_000006.10:g.27890825C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003521.3:c.25C>T MANE Select | NP_003512.1:p.Pro9Ser |
| ENST00000621112.2:c.25C>T MANE Select | ENSP00000477907.2:p.Pro9Ser |
| NM_003521.2:c.25C>T | NP_003512.1:p.Pro9Ser |
| ENST00000621112.1:c.25C>T | ENSP00000477907.1:p.Pro9Ser |