HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352483G>C , CM000671.2:g.133352483G>C | GRCh38 |
NC_000009.10:g.135209159G>C | NCBI36 |
NG_008477.1:g.9024C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.714C>G MANE Select | ENSP00000361042.3:p.Ile238Met | |
ENST00000371974.7:c.714C>G | ENSP00000361042.3:p.Ile238Met | |
ENST00000437995.1:n.624C>G | ||
ENST00000495952.5:n.704C>G | ||
ENST00000615505.4:c.387C>G | ENSP00000482067.1:p.Ile129Met | |
NM_001280787.1:c.387C>G | NP_001267716.1:p.Ile129Met | |
NM_003172.3:c.714C>G | NP_003163.1:p.Ile238Met | |
XM_011518942.1:c.387C>G | XP_011517244.1:p.Ile129Met | |
NM_003172.4:c.714C>G MANE Select | NP_003163.1:p.Ile238Met |