HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86671055C>T , CM000670.2:g.86671055C>T | GRCh38 |
NC_000008.10:g.87683283C>T , CM000670.1:g.87683283C>T | GRCh37 |
NC_000008.9:g.87752399C>T | NCBI36 |
NG_016980.1:g.77621G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.382G>A MANE Select | ENSP00000316605.5:p.Ala128Thr | |
ENST00000680314.1:n.143G>A | ||
ENST00000681746.1:c.382G>A | ENSP00000505959.1:p.Ala128Thr | |
ENST00000320005.5:c.382G>A | ENSP00000316605.5:p.Ala128Thr | |
NM_019098.4:c.382G>A | NP_061971.3:p.Ala128Thr | |
XM_011517138.1:c.-33G>A | XP_011515440.1:n.-33G>A | |
XM_011517138.2:c.-33G>A | XP_011515440.1:n.-33G>A | |
NM_019098.5:c.382G>A MANE Select | NP_061971.3:p.Ala128Thr |