HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218603T>G , CM000676.2:g.93218603T>G | GRCh38 |
NC_000014.8:g.93684949T>G , CM000676.1:g.93684949T>G | GRCh37 |
NC_000014.7:g.92754702T>G | NCBI36 |
NG_051089.1:g.16548T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000013070.11:c.678T>G MANE Select | ENSP00000013070.6:p.Pro226= | |
ENST00000013070.10:c.678T>G | ENSP00000013070.6:p.Pro226= | |
ENST00000416753.5:c.450T>G | ENSP00000391706.2:p.Pro150= | |
ENST00000553674.1:c.*379T>G | ENSP00000450470.1:n.*379T>G | |
ENST00000553857.5:c.378+3322T>G | ||
ENST00000556871.5:c.387T>G | ENSP00000451022.1:p.Pro129= | |
NM_175748.3:c.678T>G | NP_786924.2:p.Pro226= | |
NR_038150.1:n.780T>G | ||
NM_175748.4:c.678T>G MANE Select | NP_786924.2:p.Pro226= | |
NR_038150.2:n.580T>G |