HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189043154A>T , CM000664.2:g.189043154A>T | GRCh38 |
NC_000002.11:g.189907880A>T , CM000664.1:g.189907880A>T | GRCh37 |
NC_000002.10:g.189616125A>T | NCBI36 |
NG_011799.1:g.141726T>A | |
NG_011799.2:g.141726T>A | |
NG_011799.3:g.187148T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374866.9:c.3468T>A MANE Select | ENSP00000364000.3:p.Pro1156= | |
ENST00000374866.7:c.3468T>A | ENSP00000364000.3:p.Pro1156= | |
ENST00000618828.1:c.2307T>A | ENSP00000482184.1:p.Pro769= | |
NM_000393.3:c.3468T>A | NP_000384.2:p.Pro1156= | |
XM_011510573.1:c.3330T>A | XP_011508875.1:p.Pro1110= | |
NM_000393.4:c.3468T>A | NP_000384.2:p.Pro1156= | |
XM_011510573.3:c.3330T>A | XP_011508875.1:p.Pro1110= | |
NM_000393.5:c.3468T>A MANE Select | NP_000384.2:p.Pro1156= |