HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32814360G>C , CM000668.2:g.32814360G>C | GRCh38 |
NC_000006.11:g.32782137G>C , CM000668.1:g.32782137G>C | GRCh37 |
NC_000006.10:g.32890115G>C | NCBI36 |
NG_009793.3:g.29411C>G | |
NG_012008.1:g.7689C>G | |
NG_009793.4:g.29411C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438763.7:c.603C>G MANE Select | ENSP00000390020.2:p.Val201= | |
ENST00000648009.1:c.603C>G | ENSP00000496848.1:p.Val201= | |
ENST00000438763.6:c.603C>G | ENSP00000390020.2:p.Val201= | |
ENST00000452392.2:c.2424C>G | ENSP00000391806.2:p.Val808= | |
ENST00000475235.1:n.640C>G | ||
ENST00000488325.5:c.*374C>G | ENSP00000436618.1:n.*374C>G | |
NM_002120.3:c.603C>G | NP_002111.1:p.Val201= | |
NM_002120.4:c.603C>G MANE Select | NP_002111.1:p.Val201= |