HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96144670C>A , CM000670.2:g.96144670C>A | GRCh38 |
NC_000008.10:g.97156898C>A , CM000670.1:g.97156898C>A | GRCh37 |
NC_000008.9:g.97226074C>A | NCBI36 |
NG_008981.1:g.21123G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287020.7:c.1261G>T MANE Select | ENSP00000287020.4:p.Val421Leu | |
ENST00000287020.6:c.1261G>T | ENSP00000287020.4:p.Val421Leu | |
ENST00000620978.1:c.801G>T | ENSP00000480170.1:p.Ala267= | |
ENST00000621429.1:c.1010G>T | ENSP00000483711.1:p.Arg337Leu | |
NM_001001557.2:c.1261G>T | NP_001001557.1:p.Val421Leu | |
XM_011517030.1:c.862G>T | XP_011515332.1:p.Val288Leu | |
NM_001001557.3:c.1261G>T | NP_001001557.1:p.Val421Leu | |
NM_001001557.4:c.1261G>T MANE Select | NP_001001557.1:p.Val421Leu |