Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443236C>T , CM000668.2:g.32443236C>T | GRCh38 |
| NC_000006.11:g.32411013C>T , CM000668.1:g.32411013C>T | GRCh37 |
| NC_000006.10:g.32518991C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.380C>T MANE Select | ENSP00000378786.2:p.Pro127Leu | |
| ENST00000374982.5:c.329-24C>T | ENSP00000364121.5:n.329-24C>T | |
| ENST00000395388.6:c.380C>T | ENSP00000378786.2:p.Pro127Leu | |
| NM_019111.4:c.380C>T | NP_061984.2:p.Pro127Leu | |
| NM_019111.5:c.380C>T MANE Select | NP_061984.2:p.Pro127Leu |