HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21600119G>T , CM000669.2:g.21600119G>T | GRCh38 |
NC_000007.13:g.21639737G>T , CM000669.1:g.21639737G>T | GRCh37 |
NC_000007.12:g.21606262G>T | NCBI36 |
NG_012886.2:g.61905G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.3000G>T MANE Select | ENSP00000475939.1:p.Gln1000His | |
ENST00000328843.10:c.3000G>T | ENSP00000330671.7:p.Gln1000His | |
ENST00000409508.7:c.3000G>T | ENSP00000475939.1:p.Gln1000His | |
ENST00000620169.4:c.3000G>T | ENSP00000481693.1:p.Gln1000His | |
NM_001277115.1:c.3000G>T | NP_001264044.1:p.Gln1000His | |
NM_001277115.2:c.3000G>T MANE Select | NP_001264044.1:p.Gln1000His |