HGVS | Genome Assembly |
---|---|
NC_000019.10:g.41353049G>T , CM000681.2:g.41353049G>T | GRCh38 |
NC_000019.9:g.41858954G>T , CM000681.1:g.41858954G>T | GRCh37 |
NC_000019.8:g.46550794G>T | NCBI36 |
NG_013091.1:g.16125C>A | |
NG_013364.1:g.5878C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221930.6:c.-5C>A (TGFB1) MANE Select | ENSP00000221930.4:n.-5C>A | |
ENST00000221930.5:c.-5C>A (TGFB1) | ENSP00000221930.4:n.-5C>A | |
ENST00000539627.5:c.-30+1847G>T (TMEM91) | ENSP00000441900.1:n.-30+1847G>T | |
ENST00000604424.1:n.350+1847G>T | ||
NM_000660.5:c.-5C>A (TGFB1) | NP_000651.3:n.-5C>A | |
XM_011527242.1:c.-5C>A (TGFB1) | XP_011525544.1:n.-5C>A | |
NM_000660.6:c.-5C>A (TGFB1) | NP_000651.3:n.-5C>A | |
XM_011527242.2:c.-5C>A (TGFB1) | XP_011525544.1:n.-5C>A | |
NM_000660.7:c.-5C>A (TGFB1) MANE Select | NP_000651.3:n.-5C>A |