HGVS | Genome Assembly |
---|---|
NC_000014.9:g.36663009G>T , CM000676.2:g.36663009G>T | GRCh38 |
NC_000014.8:g.37132214G>T , CM000676.1:g.37132214G>T | GRCh37 |
NC_000014.7:g.36201965G>T | NCBI36 |
NG_013357.1:g.10442G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361487.7:c.117G>T MANE Select | ENSP00000355245.6:p.Pro39= | |
ENST00000555639.2:c.117G>T | ENSP00000501203.1:p.Pro39= | |
ENST00000361487.6:c.117G>T | ENSP00000355245.6:p.Pro39= | |
ENST00000402703.6:c.117G>T | ENSP00000384817.2:p.Pro39= | |
ENST00000554201.1:c.-445G>T | ENSP00000450434.1:n.-445G>T | |
ENST00000555639.1:n.419G>T | ||
NM_006194.3:c.117G>T | NP_006185.1:p.Pro39= | |
NM_001372076.1:c.117G>T MANE Select | NP_001359005.1:p.Pro39= | |
NM_006194.4:c.117G>T | NP_006185.1:p.Pro39= |