HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74529345G>A , CM000685.2:g.74529345G>A | GRCh38 |
NC_000023.10:g.73749180G>A , CM000685.1:g.73749180G>A | GRCh37 |
NC_000023.9:g.73665905G>A | NCBI36 |
NG_011641.1:g.113096G>A | |
NG_011641.2:g.113096G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000587091.6:c.1303G>A MANE Select | ENSP00000465734.1:p.Ala435Thr | |
ENST00000636771.1:c.1212G>A | ||
ENST00000587091.5:c.1303G>A | ENSP00000465734.1:p.Ala435Thr | |
ENST00000590447.1:c.611-1988G>A | ||
NM_006517.4:c.1303G>A | NP_006508.2:p.Ala435Thr | |
XM_005262294.1:c.1171-1988G>A | XP_005262351.1:n.1171-1988G>A | |
NM_006517.5:c.1303G>A MANE Select | NP_006508.2:p.Ala435Thr |