HGVS | Genome Assembly |
---|---|
NC_000007.14:g.98186940G>T , CM000669.2:g.98186940G>T | GRCh38 |
NC_000007.13:g.97816252G>T , CM000669.1:g.97816252G>T | GRCh37 |
NC_000007.12:g.97654188G>T | NCBI36 |
NG_013375.1:g.85056G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297293.6:c.940G>T MANE Select | ENSP00000297293.5:p.Val314Leu | |
ENST00000297293.5:c.940G>T | ENSP00000297293.5:p.Val314Leu | |
NM_014916.3:c.940G>T | NP_055731.2:p.Val314Leu | |
XM_011515981.1:c.934G>T | XP_011514283.1:p.Val312Leu | |
XM_011515981.3:c.934G>T | XP_011514283.1:p.Val312Leu | |
NM_014916.4:c.940G>T MANE Select | NP_055731.2:p.Val314Leu |