HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232545866G>C , CM000664.2:g.232545866G>C | GRCh38 |
NC_000002.11:g.233410576G>C , CM000664.1:g.233410576G>C | GRCh37 |
NC_000002.10:g.233118820G>C | NCBI36 |
NG_012954.1:g.11140G>C | |
NG_012954.2:g.11175G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000408957.7:c.*2241C>G (TIGD1) MANE Select | ENSP00000386186.3:n.*2241C>G | |
ENST00000651502.1:c.*150G>C (CHRNG) MANE Select | ENSP00000498757.1:n.*150G>C | |
ENST00000389494.7:c.*150G>C (CHRNG) | ENSP00000374145.3:n.*150G>C | |
NM_005199.4:c.*150G>C (CHRNG) | NP_005190.4:n.*150G>C | |
NM_005199.5:c.*150G>C (CHRNG) MANE Select | NP_005190.4:n.*150G>C | |
NM_145702.4:c.*2241C>G (TIGD1) MANE Select | NP_663748.1:n.*2241C>G |