HGVS | Genome Assembly |
---|---|
NC_000023.11:g.116173516G>T , CM000685.2:g.116173516G>T | GRCh38 |
NC_000023.10:g.115304769G>T , CM000685.1:g.115304769G>T | GRCh37 |
NC_000023.9:g.115218797G>T | NCBI36 |
NG_016326.1:g.7812G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371906.5:c.*144G>T MANE Select | ENSP00000360973.4:n.*144G>T | |
ENST00000371906.4:c.*144G>T | ENSP00000360973.4:n.*144G>T | |
NM_000686.4:c.*144G>T | NP_000677.2:n.*144G>T | |
XM_011537533.1:c.*144G>T | XP_011535835.1:n.*144G>T | |
NM_000686.5:c.*144G>T MANE Select | NP_000677.2:n.*144G>T | |
NM_001385624.1:c.*144G>T | NP_001372553.1:n.*144G>T |