HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149978027G>C , CM000667.2:g.149978027G>C | GRCh38 |
NC_000005.9:g.149357590G>C , CM000667.1:g.149357590G>C | GRCh37 |
NC_000005.8:g.149337783G>C | NCBI36 |
NG_007147.2:g.19145G>C , LRG_684:g.19145G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.607G>C | ||
ENST00000286298.5:c.375G>C MANE Select | ENSP00000286298.4:p.Gln125His | |
ENST00000286298.4:c.375G>C | ENSP00000286298.4:p.Gln125His | |
ENST00000503336.1:c.48G>C | ENSP00000426053.1:p.Gln16His | |
NM_000112.3:c.375G>C , LRG_684t1:c.375G>C | NP_000103.2:p.Gln125His | |
XM_017009191.2:c.375G>C | XP_016864680.1:p.Gln125His | |
NM_000112.4:c.375G>C MANE Select | NP_000103.2:p.Gln125His |