HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110913275A>C , CM000674.2:g.110913275A>C | GRCh38 |
NC_000012.11:g.111351079A>C , CM000674.1:g.111351079A>C | GRCh37 |
NC_000012.10:g.109835462A>C | NCBI36 |
NG_007554.1:g.12303T>G , LRG_393:g.12303T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000228841.15:c.324T>G MANE Select | ENSP00000228841.8:p.Pro108= | |
ENST00000663220.1:c.267T>G | ENSP00000499568.1:p.Pro89= | |
ENST00000228841.12:c.324T>G | ENSP00000228841.7:p.Pro108= | |
ENST00000548438.1:c.282T>G | ENSP00000447154.1:p.Pro94= | |
ENST00000549029.1:n.155T>G | ||
NM_000432.3:c.324T>G , LRG_393t1:c.324T>G | NP_000423.2:p.Pro108= | |
NM_000432.4:c.324T>G MANE Select | NP_000423.2:p.Pro108= |