HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31659819G>T , CM000683.2:g.31659819G>T | GRCh38 |
NC_000021.8:g.33032132G>T , CM000683.1:g.33032132G>T | GRCh37 |
NC_000021.7:g.31954003G>T | NCBI36 |
NG_008689.1:g.5198G>T , LRG_652:g.5198G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.50G>T MANE Select | ENSP00000270142.7:p.Gly17Val | |
ENST00000270142.10:c.50G>T | ENSP00000270142.6:p.Gly17Val | |
ENST00000389995.4:c.15+35G>T | ENSP00000374645.4:n.15+35G>T | |
ENST00000470944.1:n.111G>T | ||
ENST00000476106.5:n.127G>T | ||
NM_000454.4:c.50G>T , LRG_652t1:c.50G>T | NP_000445.1:p.Gly17Val | |
NM_000454.5:c.50G>T MANE Select | NP_000445.1:p.Gly17Val |