Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443424G>T , CM000668.2:g.32443424G>T | GRCh38 |
| NC_000006.11:g.32411201G>T , CM000668.1:g.32411201G>T | GRCh37 |
| NC_000006.10:g.32519179G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.568G>T MANE Select | ENSP00000378786.2:p.Val190Leu | |
| ENST00000374982.5:c.493G>T | ENSP00000364121.5:p.Val165Leu | |
| ENST00000395388.6:c.568G>T | ENSP00000378786.2:p.Val190Leu | |
| NM_019111.4:c.568G>T | NP_061984.2:p.Val190Leu | |
| NM_019111.5:c.568G>T MANE Select | NP_061984.2:p.Val190Leu |