HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40472272T>G , CM000677.2:g.40472272T>G | GRCh38 |
NC_000015.9:g.40764471T>G , CM000677.1:g.40764471T>G | GRCh37 |
NC_000015.8:g.38551763T>G | NCBI36 |
NG_017074.1:g.6312T>G , LRG_600:g.6312T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306243.7:c.1059T>G MANE Select | ENSP00000307297.6:p.Pro353= | |
ENST00000306243.6:c.1059T>G | ENSP00000307297.5:p.Pro353= | |
ENST00000559991.1:c.984T>G | ENSP00000453882.1:p.Pro328= | |
NM_130468.3:c.1059T>G , LRG_600t1:c.1059T>G | NP_569735.1:p.Pro353= | |
NM_130468.4:c.1059T>G MANE Select | NP_569735.1:p.Pro353= |