HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48348993G>T , CM000675.2:g.48348993G>T | GRCh38 |
NC_000013.10:g.48923129G>T , CM000675.1:g.48923129G>T | GRCh37 |
NC_000013.9:g.47821130G>T | NCBI36 |
NG_009009.1:g.50247G>T , LRG_517:g.50247G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.577G>T MANE Select | ENSP00000267163.4:p.Val193Phe | |
ENST00000650461.1:c.577G>T | ENSP00000497193.1:p.Val193Phe | |
ENST00000267163.4:c.577G>T | ENSP00000267163.4:p.Val193Phe | |
ENST00000467505.5:c.138-11024G>T | ENSP00000434702.1:n.138-11024G>T | |
ENST00000525036.1:n.739G>T | ||
NM_000321.2:c.577G>T , LRG_517t1:c.577G>T | NP_000312.2:p.Val193Phe | |
XM_011535171.1:c.316G>T | XP_011533473.1:p.Val106Phe | |
XM_011535171.2:c.316G>T | XP_011533473.1:p.Val106Phe | |
NM_000321.3:c.577G>T MANE Select | NP_000312.2:p.Val193Phe |