HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57763700G>T , CM000674.2:g.57763700G>T | GRCh38 |
NC_000012.11:g.58157483G>T , CM000674.1:g.58157483G>T | GRCh37 |
NC_000012.10:g.56443750G>T | NCBI36 |
NG_007076.1:g.8494C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000713544.1:c.1405C>A | ENSP00000518840.1:p.Pro469Thr | |
ENST00000713545.1:c.*329C>A | ENSP00000518841.1:n.*329C>A | |
ENST00000228606.9:c.1324C>A MANE Select | ENSP00000228606.4:p.Pro442Thr | |
ENST00000228606.8:c.1324C>A | ENSP00000228606.4:p.Pro442Thr | |
ENST00000547344.5:n.1463C>A | ||
NM_000785.3:c.1324C>A | NP_000776.1:p.Pro442Thr | |
NM_000785.4:c.1324C>A MANE Select | NP_000776.1:p.Pro442Thr |