HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116789A>C , CM000669.2:g.19116789A>C | GRCh38 |
NC_000007.13:g.19156412A>C , CM000669.1:g.19156412A>C | GRCh37 |
NC_000007.12:g.19122937A>C | NCBI36 |
NG_008114.1:g.5884T>G | |
NG_008114.2:g.5884T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.533T>G MANE Select | ENSP00000242261.5:p.Val178Gly | |
ENST00000242261.5:c.533T>G | ENSP00000242261.5:p.Val178Gly | |
ENST00000354571.5:c.330T>G | ||
ENST00000443687.5:c.136T>G | ||
NM_000474.3:c.533T>G | NP_000465.1:p.Val178Gly | |
XM_011515496.1:c.533T>G | XP_011513798.1:p.Val178Gly | |
NR_149001.1:n.884T>G | ||
NM_000474.4:c.533T>G MANE Select | NP_000465.1:p.Val178Gly | |
NR_149001.2:n.848T>G |