Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443772C>T , CM000668.2:g.32443772C>T | GRCh38 |
| NC_000006.11:g.32411549C>T , CM000668.1:g.32411549C>T | GRCh37 |
| NC_000006.10:g.32519527C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395388.7:c.627C>T MANE Select | ENSP00000378786.2:p.Ser209= | |
| ENST00000374982.5:c.552C>T | ENSP00000364121.5:p.Ser184= | |
| ENST00000395388.6:c.627C>T | ENSP00000378786.2:p.Ser209= | |
| NM_019111.4:c.627C>T | NP_061984.2:p.Ser209= | |
| NM_019111.5:c.627C>T MANE Select | NP_061984.2:p.Ser209= |