Linked Data
ClinVar Variation Id:
1605271
ClinVar RCV Id:
RCV002135057
dbSNP Id:
rs775720479
ExAC:
19:41858907 G / A
gnomAD v2:
19-41858907-G-A
gnomAD v3:
19-41353002-G-A
gnomAD v4:
19-41353002-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41353002G>A , CM000681.2:g.41353002G>A | GRCh38 |
| NC_000019.9:g.41858907G>A , CM000681.1:g.41858907G>A | GRCh37 |
| NC_000019.8:g.46550747G>A | NCBI36 |
| NG_013091.1:g.16172C>T | |
| NG_013364.1:g.5925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.43C>T (TGFB1) MANE Select | ENSP00000221930.4:p.Leu15= | |
| ENST00000600196.2:c.43C>T (TGFB1) | ENSP00000504008.1:p.Leu15= | |
| ENST00000677934.1:c.43C>T (TGFB1) | ENSP00000504769.1:p.Leu15= | |
| ENST00000221930.5:c.43C>T (TGFB1) | ENSP00000221930.4:p.Leu15= | |
| ENST00000539627.5:c.-30+1800G>A (TMEM91) | ENSP00000441900.1:n.-30+1800G>A | |
| ENST00000604424.1:n.350+1800G>A | ||
| NM_000660.5:c.43C>T (TGFB1) | NP_000651.3:p.Leu15= | |
| XM_011527242.1:c.43C>T (TGFB1) | XP_011525544.1:p.Leu15= | |
| NM_000660.6:c.43C>T (TGFB1) | NP_000651.3:p.Leu15= | |
| XM_011527242.2:c.43C>T (TGFB1) | XP_011525544.1:p.Leu15= | |
| NM_000660.7:c.43C>T (TGFB1) MANE Select | NP_000651.3:p.Leu15= |