HGVS | Genome Assembly |
---|---|
NC_000019.10:g.694927G>T , CM000681.2:g.694927G>T | GRCh38 |
NC_000019.9:g.694927G>T , CM000681.1:g.694927G>T | GRCh37 |
NC_000019.8:g.645927G>T | NCBI36 |
NG_051189.1:g.5605C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329267.9:c.120C>A MANE Select | ENSP00000327386.6:p.Thr40= | |
ENST00000329267.8:c.120C>A | ENSP00000327386.6:p.Thr40= | |
ENST00000613411.4:c.123C>A | ENSP00000482358.1:p.Thr41= | |
NM_001308209.1:c.120C>A | NP_001295138.1:p.Thr40= | |
NM_214710.3:c.123C>A | NP_999875.1:p.Thr41= | |
NM_214710.4:c.123C>A | NP_999875.1:p.Thr41= | |
NM_001308209.2:c.120C>A MANE Select | NP_001295138.2:p.Thr40= | |
NM_214710.5:c.123C>A | NP_999875.2:p.Thr41= |