HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766030C>G , CM000674.2:g.57766030C>G | GRCh38 |
NC_000012.11:g.58159813C>G , CM000674.1:g.58159813C>G | GRCh37 |
NC_000012.10:g.56446080C>G | NCBI36 |
NG_007076.1:g.6164G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000546609.2:n.275G>C | ||
ENST00000713544.1:c.363G>C | ENSP00000518840.1:p.Gln121His | |
ENST00000713545.1:c.363G>C | ENSP00000518841.1:p.Gln121His | |
ENST00000228606.9:c.363G>C MANE Select | ENSP00000228606.4:p.Gln121His | |
ENST00000228606.8:c.363G>C | ENSP00000228606.4:p.Gln121His | |
ENST00000546496.1:n.191G>C | ||
ENST00000546609.1:c.275G>C | ||
ENST00000547344.5:n.417G>C | ||
ENST00000552186.1:n.482G>C | ||
NM_000785.3:c.363G>C | NP_000776.1:p.Gln121His | |
NM_000785.4:c.363G>C MANE Select | NP_000776.1:p.Gln121His |