Linked Data
ClinVar Variation Id:
2112648
ClinVar RCV Id:
RCV003034678
dbSNP Id:
rs1413735402
gnomAD v2:
19-41858877-G-C
gnomAD v4:
19-41352972-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41352972G>C , CM000681.2:g.41352972G>C | GRCh38 |
| NC_000019.9:g.41858877G>C , CM000681.1:g.41858877G>C | GRCh37 |
| NC_000019.8:g.46550717G>C | NCBI36 |
| NG_013091.1:g.16202C>G | |
| NG_013364.1:g.5955C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.73C>G (TGFB1) MANE Select | ENSP00000221930.4:p.Arg25Gly | |
| ENST00000600196.2:c.73C>G (TGFB1) | ENSP00000504008.1:p.Arg25Gly | |
| ENST00000677934.1:c.73C>G (TGFB1) | ENSP00000504769.1:p.Arg25Gly | |
| ENST00000221930.5:c.73C>G (TGFB1) | ENSP00000221930.4:p.Arg25Gly | |
| ENST00000539627.5:c.-30+1770G>C (TMEM91) | ENSP00000441900.1:n.-30+1770G>C | |
| ENST00000604424.1:n.350+1770G>C | ||
| NM_000660.5:c.73C>G (TGFB1) | NP_000651.3:p.Arg25Gly | |
| XM_011527242.1:c.73C>G (TGFB1) | XP_011525544.1:p.Arg25Gly | |
| NM_000660.6:c.73C>G (TGFB1) | NP_000651.3:p.Arg25Gly | |
| XM_011527242.2:c.73C>G (TGFB1) | XP_011525544.1:p.Arg25Gly | |
| NM_000660.7:c.73C>G (TGFB1) MANE Select | NP_000651.3:p.Arg25Gly |