HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352596C>G , CM000671.2:g.133352596C>G | GRCh38 |
NC_000009.10:g.135209272C>G | NCBI36 |
NG_008477.1:g.8911G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.601G>C MANE Select | ENSP00000361042.3:p.Val201Leu | |
ENST00000371974.7:c.601G>C | ENSP00000361042.3:p.Val201Leu | |
ENST00000437995.1:n.511G>C | ||
ENST00000495952.5:n.591G>C | ||
ENST00000615505.4:c.274G>C | ENSP00000482067.1:p.Val92Leu | |
NM_001280787.1:c.274G>C | NP_001267716.1:p.Val92Leu | |
NM_003172.3:c.601G>C | NP_003163.1:p.Val201Leu | |
XM_011518942.1:c.274G>C | XP_011517244.1:p.Val92Leu | |
NM_003172.4:c.601G>C MANE Select | NP_003163.1:p.Val201Leu |