Linked Data
ClinVar Variation Id:
1033472
ClinVar RCV Id:
RCV001335898
dbSNP Id:
rs923491109
gnomAD v3:
1-197122175-G-A
gnomAD v4:
1-197122175-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197122175G>A , CM000663.2:g.197122175G>A | GRCh38 |
| NC_000001.10:g.197091305G>A , CM000663.1:g.197091305G>A | GRCh37 |
| NC_000001.9:g.195357928G>A | NCBI36 |
| NG_015867.1:g.29520C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.1767C>T | ||
| ENST00000367409.9:c.3725C>T MANE Select | ENSP00000356379.4:p.Thr1242Ile | |
| ENST00000680112.1:n.1781C>T | ||
| ENST00000680265.1:c.3725C>T | ENSP00000505384.1:p.Thr1242Ile | |
| ENST00000680710.1:c.3725C>T | ENSP00000506676.1:p.Thr1242Ile | |
| ENST00000681879.1:c.3725C>T | ENSP00000505363.1:p.Thr1242Ile | |
| ENST00000294732.11:c.3725C>T | ENSP00000294732.7:p.Thr1242Ile | |
| ENST00000367408.5:c.1475C>T | ENSP00000356378.1:p.Thr492Ile | |
| ENST00000367409.8:c.3725C>T | ENSP00000356379.4:p.Thr1242Ile | |
| ENST00000612785.1:c.562-19528C>T | ENSP00000479244.1:n.562-19528C>T | |
| NM_001206846.1:c.3725C>T | NP_001193775.1:p.Thr1242Ile | |
| NM_018136.4:c.3725C>T | NP_060606.3:p.Thr1242Ile | |
| NM_018136.5:c.3725C>T MANE Select | NP_060606.3:p.Thr1242Ile | |
| NM_001206846.2:c.3725C>T | NP_001193775.1:p.Thr1242Ile |