HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110911100T>G , CM000674.2:g.110911100T>G | GRCh38 |
NC_000012.11:g.111348904T>G , CM000674.1:g.111348904T>G | GRCh37 |
NC_000012.10:g.109833287T>G | NCBI36 |
NG_007554.1:g.14478A>C , LRG_393:g.14478A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000228841.15:c.478A>C MANE Select | ENSP00000228841.8:p.Thr160Pro | |
ENST00000663220.1:c.421A>C | ENSP00000499568.1:p.Thr141Pro | |
ENST00000228841.12:c.478A>C | ENSP00000228841.7:p.Thr160Pro | |
ENST00000548438.1:c.436A>C | ENSP00000447154.1:p.Thr146Pro | |
NM_000432.3:c.478A>C , LRG_393t1:c.478A>C | NP_000423.2:p.Thr160Pro | |
NM_000432.4:c.478A>C MANE Select | NP_000423.2:p.Thr160Pro |