HGVS | Genome Assembly |
---|---|
NC_000001.11:g.23867908C>T , CM000663.2:g.23867908C>T | GRCh38 |
NC_000001.10:g.24194398C>T , CM000663.1:g.24194398C>T | GRCh37 |
NC_000001.9:g.24066985C>T | NCBI36 |
NG_013346.1:g.5462G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374479.4:c.379G>A MANE Select | ENSP00000363603.3:p.Ala127Thr | |
ENST00000374479.3:c.379G>A | ENSP00000363603.3:p.Ala127Thr | |
NM_000147.4:c.379G>A | NP_000138.2:p.Ala127Thr | |
XM_005245821.1:c.-171G>A | XP_005245878.1:n.-171G>A | |
XM_005245821.3:c.-171G>A | XP_005245878.1:n.-171G>A | |
NM_000147.5:c.379G>A MANE Select | NP_000138.2:p.Ala127Thr | |
NR_174379.1:n.383G>A | ||
NR_174380.1:n.383G>A | ||
NR_174381.1:n.383G>A | ||
NR_174382.1:n.383G>A |