HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107698093T>G , CM000669.2:g.107698093T>G | GRCh38 |
NC_000007.13:g.107338538T>G , CM000669.1:g.107338538T>G | GRCh37 |
NC_000007.12:g.107125774T>G | NCBI36 |
NG_008489.1:g.42459T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.1596T>G MANE Select | ENSP00000494017.1:p.Ser532Arg | |
ENST00000644846.1:c.307T>G | ||
ENST00000265715.7:c.1596T>G | ENSP00000265715.3:p.Ser532Arg | |
ENST00000477350.5:n.443T>G | ||
ENST00000480841.5:n.445T>G | ||
NM_000441.1:c.1596T>G | NP_000432.1:p.Ser532Arg | |
XM_005250425.1:c.1596T>G | XP_005250482.1:p.Ser532Arg | |
XM_005250425.2:c.1596T>G | XP_005250482.1:p.Ser532Arg | |
XM_017012318.1:c.1518T>G | XP_016867807.1:p.Ser506Arg | |
NM_000441.2:c.1596T>G MANE Select | NP_000432.1:p.Ser532Arg |