HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6714224G>A , CM000681.2:g.6714224G>A | GRCh38 |
NC_000019.9:g.6714235G>A , CM000681.1:g.6714235G>A | GRCh37 |
NC_000019.8:g.6665235G>A | NCBI36 |
NG_009557.1:g.11428C>T , LRG_27:g.11428C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.501C>T | ENSP00000512083.1:p.Ala167= | |
ENST00000245907.11:c.624C>T MANE Select | ENSP00000245907.4:p.Ala208= | |
ENST00000245907.10:c.624C>T | ENSP00000245907.4:p.Ala208= | |
ENST00000595577.1:n.128C>T | ||
NM_000064.3:c.624C>T | NP_000055.2:p.Ala208= | |
NM_000064.4:c.624C>T MANE Select | NP_000055.2:p.Ala208= |