HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32814362C>G , CM000668.2:g.32814362C>G | GRCh38 |
NC_000006.11:g.32782139C>G , CM000668.1:g.32782139C>G | GRCh37 |
NC_000006.10:g.32890117C>G | NCBI36 |
NG_009793.3:g.29409G>C | |
NG_012008.1:g.7687G>C | |
NG_009793.4:g.29409G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438763.7:c.601G>C MANE Select | ENSP00000390020.2:p.Val201Leu | |
ENST00000648009.1:c.601G>C | ENSP00000496848.1:p.Val201Leu | |
ENST00000438763.6:c.601G>C | ENSP00000390020.2:p.Val201Leu | |
ENST00000452392.2:c.2422G>C | ENSP00000391806.2:p.Val808Leu | |
ENST00000475235.1:n.638G>C | ||
ENST00000488325.5:c.*372G>C | ENSP00000436618.1:n.*372G>C | |
NM_002120.3:c.601G>C | NP_002111.1:p.Val201Leu | |
NM_002120.4:c.601G>C MANE Select | NP_002111.1:p.Val201Leu |