Linked Data
dbSNP Id:
rs11466315
gnomAD v2:
19-41859776-C-G
gnomAD v3:
19-41353871-C-G
gnomAD v4:
19-41353871-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41353871C>G , CM000681.2:g.41353871C>G | GRCh38 |
| NC_000019.9:g.41859776C>G , CM000681.1:g.41859776C>G | GRCh37 |
| NC_000019.8:g.46551616C>G | NCBI36 |
| NG_013091.1:g.15303G>C | |
| NG_013364.1:g.5056G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000221930.6:c.-827G>C (TGFB1) MANE Select | ENSP00000221930.4:n.-827G>C | |
| ENST00000221930.5:c.-827G>C (TGFB1) | ENSP00000221930.4:n.-827G>C | |
| ENST00000539627.5:c.-30+2669C>G (TMEM91) | ENSP00000441900.1:n.-30+2669C>G | |
| ENST00000604424.1:n.350+2669C>G | ||
| NM_000660.5:c.-827G>C (TGFB1) | NP_000651.3:n.-827G>C | |
| XM_011527242.1:c.-827G>C (TGFB1) | XP_011525544.1:n.-827G>C | |
| NM_000660.6:c.-827G>C (TGFB1) | NP_000651.3:n.-827G>C | |
| NM_000660.7:c.-827G>C (TGFB1) MANE Select | NP_000651.3:n.-827G>C |