Linked Data
ClinVar Variation Id:
12532
ClinVar RCV Id:
RCV000013358
dbSNP Id:
rs111033611
gnomAD v4:
19-41352804-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41352804A>G , CM000681.2:g.41352804A>G | GRCh38 |
| NC_000019.9:g.41858709A>G , CM000681.1:g.41858709A>G | GRCh37 |
| NC_000019.8:g.46550549A>G | NCBI36 |
| NG_013091.1:g.16370T>C | |
| NG_013364.1:g.6123T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000221930.6:c.241T>C (TGFB1) MANE Select | ENSP00000221930.4:p.Tyr81His | |
| ENST00000600196.2:c.241T>C (TGFB1) | ENSP00000504008.1:p.Tyr81His | |
| ENST00000677934.1:c.241T>C (TGFB1) | ENSP00000504769.1:p.Tyr81His | |
| ENST00000221930.5:c.241T>C (TGFB1) | ENSP00000221930.4:p.Tyr81His | |
| ENST00000539627.5:c.-30+1602A>G (TMEM91) | ENSP00000441900.1:n.-30+1602A>G | |
| ENST00000604424.1:n.350+1602A>G | ||
| NM_000660.5:c.241T>C (TGFB1) | NP_000651.3:p.Tyr81His | |
| XM_011527242.1:c.241T>C (TGFB1) | XP_011525544.1:p.Tyr81His | |
| NM_000660.6:c.241T>C (TGFB1) | NP_000651.3:p.Tyr81His | |
| XM_011527242.2:c.241T>C (TGFB1) | XP_011525544.1:p.Tyr81His | |
| NM_000660.7:c.241T>C (TGFB1) MANE Select | NP_000651.3:p.Tyr81His |