HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48965837A>C , CM000681.2:g.48965837A>C | GRCh38 |
NC_000019.9:g.49469094A>C , CM000681.1:g.49469094A>C | GRCh37 |
NC_000019.8:g.54160906A>C | NCBI36 |
NG_008152.1:g.5529A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331825.11:c.170A>C MANE Select | ENSP00000366525.2:p.Glu57Ala | |
ENST00000331825.10:c.170A>C | ENSP00000366525.2:p.Glu57Ala | |
ENST00000622577.2:c.170A>C | ENSP00000484043.1:p.Glu57Ala | |
NM_000146.3:c.170A>C | NP_000137.2:p.Glu57Ala | |
XM_024451447.1:c.680A>C | XP_024307215.1:p.Glu227Ala | |
NM_000146.4:c.170A>C MANE Select | NP_000137.2:p.Glu57Ala |