HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232545761C>A , CM000664.2:g.232545761C>A | GRCh38 |
NC_000002.11:g.233410471C>A , CM000664.1:g.233410471C>A | GRCh37 |
NC_000002.10:g.233118715C>A | NCBI36 |
NG_012954.1:g.11035C>A | |
NG_012954.2:g.11070C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000408957.7:c.*2346G>T (TIGD1) MANE Select | ENSP00000386186.3:n.*2346G>T | |
ENST00000651502.1:c.*45C>A (CHRNG) MANE Select | ENSP00000498757.1:n.*45C>A | |
ENST00000389494.7:c.*45C>A (CHRNG) | ENSP00000374145.3:n.*45C>A | |
NM_005199.4:c.*45C>A (CHRNG) | NP_005190.4:n.*45C>A | |
NM_005199.5:c.*45C>A (CHRNG) MANE Select | NP_005190.4:n.*45C>A | |
NM_145702.4:c.*2346G>T (TIGD1) MANE Select | NP_663748.1:n.*2346G>T |