HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38146100A>C , CM000670.2:g.38146100A>C | GRCh38 |
NC_000008.10:g.38003618A>C , CM000670.1:g.38003618A>C | GRCh37 |
NC_000008.9:g.38122775A>C | NCBI36 |
NG_011827.1:g.9983T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276449.9:c.513T>G MANE Select | ENSP00000276449.3:p.Ala171= | |
ENST00000276449.8:c.513T>G | ENSP00000276449.3:p.Ala171= | |
ENST00000520114.1:n.1000T>G | ||
ENST00000522050.1:c.449T>G | ||
NM_000349.2:c.513T>G | NP_000340.2:p.Ala171= | |
XM_006716392.1:c.513T>G | XP_006716455.1:p.Ala171= | |
NM_000349.3:c.513T>G MANE Select | NP_000340.2:p.Ala171= |