HGVS | Genome Assembly |
---|---|
NC_000019.10:g.41353045G>C , CM000681.2:g.41353045G>C | GRCh38 |
NC_000019.9:g.41858950G>C , CM000681.1:g.41858950G>C | GRCh37 |
NC_000019.8:g.46550790G>C | NCBI36 |
NG_013091.1:g.16129C>G | |
NG_013364.1:g.5882C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221930.6:c.-1C>G (TGFB1) MANE Select | ENSP00000221930.4:n.-1C>G | |
ENST00000221930.5:c.-1C>G (TGFB1) | ENSP00000221930.4:n.-1C>G | |
ENST00000539627.5:c.-30+1843G>C (TMEM91) | ENSP00000441900.1:n.-30+1843G>C | |
ENST00000604424.1:n.350+1843G>C | ||
NM_000660.5:c.-1C>G (TGFB1) | NP_000651.3:n.-1C>G | |
XM_011527242.1:c.-1C>G (TGFB1) | XP_011525544.1:n.-1C>G | |
NM_000660.6:c.-1C>G (TGFB1) | NP_000651.3:n.-1C>G | |
XM_011527242.2:c.-1C>G (TGFB1) | XP_011525544.1:n.-1C>G | |
NM_000660.7:c.-1C>G (TGFB1) MANE Select | NP_000651.3:n.-1C>G |