HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20759956C>A , CM000686.2:g.20759956C>A | GRCh38 |
NC_000024.9:g.22921842C>A , CM000686.1:g.22921842C>A | GRCh37 |
NC_000024.8:g.21331230C>A | NCBI36 |
NG_032924.1:g.8889C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000629237.2:c.170C>A MANE Select | ENSP00000486252.1:p.Thr57Asn | |
ENST00000629237.1:c.170C>A | ENSP00000486252.1:p.Thr57Asn | |
NM_001039567.2:c.170C>A | NP_001034656.1:p.Thr57Asn | |
XM_011531423.1:c.119C>A | XP_011529725.1:p.Thr40Asn | |
NM_001039567.3:c.170C>A MANE Select | NP_001034656.1:p.Thr57Asn |