Linked Data
ClinVar Variation Id:
1977671
ClinVar RCV Id:
RCV002736735
dbSNP Id:
rs533204331
ExAC:
19:41858759 C / G
gnomAD v2:
19-41858759-C-G
gnomAD v3:
19-41352854-C-G
gnomAD v4:
19-41352854-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41352854C>G , CM000681.2:g.41352854C>G | GRCh38 |
| NC_000019.9:g.41858759C>G , CM000681.1:g.41858759C>G | GRCh37 |
| NC_000019.8:g.46550599C>G | NCBI36 |
| NG_013091.1:g.16320G>C | |
| NG_013364.1:g.6073G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.191G>C (TGFB1) MANE Select | ENSP00000221930.4:p.Ser64Thr | |
| ENST00000600196.2:c.191G>C (TGFB1) | ENSP00000504008.1:p.Ser64Thr | |
| ENST00000677934.1:c.191G>C (TGFB1) | ENSP00000504769.1:p.Ser64Thr | |
| ENST00000221930.5:c.191G>C (TGFB1) | ENSP00000221930.4:p.Ser64Thr | |
| ENST00000539627.5:c.-30+1652C>G (TMEM91) | ENSP00000441900.1:n.-30+1652C>G | |
| ENST00000604424.1:n.350+1652C>G | ||
| NM_000660.5:c.191G>C (TGFB1) | NP_000651.3:p.Ser64Thr | |
| XM_011527242.1:c.191G>C (TGFB1) | XP_011525544.1:p.Ser64Thr | |
| NM_000660.6:c.191G>C (TGFB1) | NP_000651.3:p.Ser64Thr | |
| XM_011527242.2:c.191G>C (TGFB1) | XP_011525544.1:p.Ser64Thr | |
| NM_000660.7:c.191G>C (TGFB1) MANE Select | NP_000651.3:p.Ser64Thr |