HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99949728C>T , CM000666.2:g.99949728C>T | GRCh38 |
NC_000004.11:g.100870885C>T , CM000666.1:g.100870885C>T | GRCh37 |
NC_000004.10:g.101089908C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296417.6:c.16G>A MANE Select | ENSP00000296417.5:p.Ala6Thr | |
ENST00000651623.1:c.16G>A | ENSP00000498935.1:p.Ala6Thr | |
ENST00000296417.5:c.16G>A | ENSP00000296417.5:p.Ala6Thr | |
ENST00000511203.1:n.572G>A | ||
ENST00000511319.5:n.541G>A | ||
ENST00000511348.1:n.201G>A | ||
ENST00000527366.1:n.100G>A | ||
ENST00000529158.5:n.65G>A | ||
NM_002106.3:c.16G>A | NP_002097.1:p.Ala6Thr | |
NM_002106.4:c.16G>A MANE Select | NP_002097.1:p.Ala6Thr |