HGVS | Genome Assembly |
---|---|
NC_000012.12:g.69353490T>G , CM000674.2:g.69353490T>G | GRCh38 |
NC_000012.11:g.69747270T>G , CM000674.1:g.69747270T>G | GRCh37 |
NC_000012.10:g.68033537T>G | NCBI36 |
NG_008195.1:g.10137T>G , LRG_768:g.10137T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261267.7:c.*271T>G MANE Select | ENSP00000261267.2:n.*271T>G | |
ENST00000261267.6:c.*271T>G | ENSP00000261267.2:n.*271T>G | |
ENST00000549690.1:c.*225T>G | ENSP00000449898.1:n.*225T>G | |
NM_000239.2:c.*271T>G , LRG_768t1:c.*271T>G | NP_000230.1:n.*271T>G | |
NM_000239.3:c.*271T>G MANE Select | NP_000230.1:n.*271T>G |