HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96145078G>A , CM000670.2:g.96145078G>A | GRCh38 |
NC_000008.10:g.97157306G>A , CM000670.1:g.97157306G>A | GRCh37 |
NC_000008.9:g.97226482G>A | NCBI36 |
NG_008981.1:g.20715C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287020.7:c.853C>T MANE Select | ENSP00000287020.4:p.Gln285Ter | |
ENST00000287020.6:c.853C>T | ENSP00000287020.4:p.Gln285Ter | |
ENST00000620978.1:c.791C>T | ENSP00000480170.1:p.Pro264Leu | |
ENST00000621429.1:c.853C>T | ENSP00000483711.1:p.Gln285Ter | |
NM_001001557.2:c.853C>T | NP_001001557.1:p.Gln285Ter | |
XM_011517030.1:c.454C>T | XP_011515332.1:p.Gln152Ter | |
NM_001001557.3:c.853C>T | NP_001001557.1:p.Gln285Ter | |
NM_001001557.4:c.853C>T MANE Select | NP_001001557.1:p.Gln285Ter |