Linked Data
gnomAD v4:
19-41353050-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41353050A>G , CM000681.2:g.41353050A>G | GRCh38 |
| NC_000019.9:g.41858955A>G , CM000681.1:g.41858955A>G | GRCh37 |
| NC_000019.8:g.46550795A>G | NCBI36 |
| NG_013091.1:g.16124T>C | |
| NG_013364.1:g.5877T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.-6T>C (TGFB1) MANE Select | ENSP00000221930.4:n.-6T>C | |
| ENST00000221930.5:c.-6T>C (TGFB1) | ENSP00000221930.4:n.-6T>C | |
| ENST00000539627.5:c.-30+1848A>G (TMEM91) | ENSP00000441900.1:n.-30+1848A>G | |
| ENST00000604424.1:n.350+1848A>G | ||
| NM_000660.5:c.-6T>C (TGFB1) | NP_000651.3:n.-6T>C | |
| XM_011527242.1:c.-6T>C (TGFB1) | XP_011525544.1:n.-6T>C | |
| NM_000660.6:c.-6T>C (TGFB1) | NP_000651.3:n.-6T>C | |
| XM_011527242.2:c.-6T>C (TGFB1) | XP_011525544.1:n.-6T>C | |
| NM_000660.7:c.-6T>C (TGFB1) MANE Select | NP_000651.3:n.-6T>C |