HGVS | Genome Assembly |
---|---|
NC_000013.11:g.110166289G>A , CM000675.2:g.110166289G>A | GRCh38 |
NC_000013.10:g.110818636G>A , CM000675.1:g.110818636G>A | GRCh37 |
NC_000013.9:g.109616637G>A | NCBI36 |
NG_011544.2:g.145861C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375820.10:c.3964C>T MANE Select | ENSP00000364979.4:p.Pro1322Ser | |
ENST00000650424.1:c.120C>T | ||
ENST00000375820.8:c.3964C>T | ENSP00000364979.4:p.Pro1322Ser | |
NM_001845.5:c.3964C>T | NP_001836.3:p.Pro1322Ser | |
XM_011521048.1:c.3772C>T | XP_011519350.1:p.Pro1258Ser | |
XM_011521048.2:c.3772C>T | XP_011519350.1:p.Pro1258Ser | |
NM_001845.6:c.3964C>T MANE Select | NP_001836.3:p.Pro1322Ser |