HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115768313G>A , CM000663.2:g.115768313G>A | GRCh38 |
NC_000001.10:g.116310934G>A , CM000663.1:g.116310934G>A | GRCh37 |
NC_000001.9:g.116112457G>A | NCBI36 |
NG_008802.1:g.5493C>T , LRG_404:g.5493C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000488931.2:c.-48C>T | ENSP00000518226.1:n.-48C>T | |
ENST00000261448.6:c.229C>T MANE Select | ENSP00000261448.5:p.Leu77Phe | |
ENST00000261448.5:c.229C>T | ENSP00000261448.5:p.Leu77Phe | |
NM_001232.3:c.229C>T , LRG_404t1:c.229C>T | NP_001223.2:p.Leu77Phe | |
NM_001232.4:c.229C>T MANE Select | NP_001223.2:p.Leu77Phe |