HGVS | Genome Assembly |
---|---|
NC_000023.11:g.23379693G>T , CM000685.2:g.23379693G>T | GRCh38 |
NC_000023.10:g.23397810G>T , CM000685.1:g.23397810G>T | GRCh37 |
NC_000023.9:g.23307731G>T | NCBI36 |
NG_021300.1:g.49826G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379361.5:c.454G>T MANE Select | ENSP00000368666.4:p.Asp152Tyr | |
ENST00000379361.4:c.454G>T | ENSP00000368666.4:p.Asp152Tyr | |
ENST00000456522.1:c.159-12838G>T | ||
ENST00000616022.1:c.139G>T | ENSP00000478663.1:p.Asp47Tyr | |
NM_173495.2:c.454G>T | NP_775766.2:p.Asp152Tyr | |
XM_011545449.1:c.454G>T | XP_011543751.1:p.Asp152Tyr | |
XM_011545449.3:c.454G>T | XP_011543751.1:p.Asp152Tyr | |
NM_173495.3:c.454G>T MANE Select | NP_775766.2:p.Asp152Tyr |