HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6224717T>A , CM000668.2:g.6224717T>A | GRCh38 |
NC_000006.11:g.6224950T>A , CM000668.1:g.6224950T>A | GRCh37 |
NC_000006.10:g.6169949T>A | NCBI36 |
NG_008107.1:g.100975A>T , LRG_549:g.100975A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264870.8:c.942A>T MANE Select | ENSP00000264870.3:p.Gln314His | |
ENST00000264870.7:c.942A>T | ENSP00000264870.3:p.Gln314His | |
ENST00000445223.1:c.92A>T | ||
NM_000129.3:c.942A>T , LRG_549t1:c.942A>T | NP_000120.2:p.Gln314His | |
XM_006715010.2:c.942A>T | XP_006715073.1:p.Gln314His | |
XM_011514342.1:c.1104A>T | XP_011512644.1:p.Gln368His | |
NM_000129.4:c.942A>T MANE Select | NP_000120.2:p.Gln314His |