Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20005801C>A , CM000664.2:g.20005801C>A | GRCh38 |
| NC_000002.11:g.20205562C>A , CM000664.1:g.20205562C>A | GRCh37 |
| NC_000002.10:g.20069043C>A | NCBI36 |
| NG_008087.1:g.11894G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.733G>T MANE Select | ENSP00000383894.3:p.Val245Leu | |
| ENST00000407540.7:c.733G>T | ENSP00000383894.3:p.Val245Leu | |
| ENST00000421259.2:c.733G>T | ENSP00000398753.2:p.Val245Leu | |
| NM_002381.4:c.733G>T | NP_002372.1:p.Val245Leu | |
| NM_002381.5:c.733G>T MANE Select | NP_002372.1:p.Val245Leu |