Linked Data
ClinVar Variation Id:
1334831
ClinVar RCV Id:
RCV001815098
dbSNP Id:
rs982547840
gnomAD v4:
6-139373421-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373421G>A , CM000668.2:g.139373421G>A | GRCh38 |
| NC_000006.11:g.139694558G>A , CM000668.1:g.139694558G>A | GRCh37 |
| NC_000006.10:g.139736251G>A | NCBI36 |
| NG_016169.1:g.6228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.524C>T MANE Select | ENSP00000356623.2:p.Thr175Ile | |
| ENST00000367651.3:c.524C>T | ENSP00000356623.2:p.Thr175Ile | |
| ENST00000536159.2:c.524C>T | ENSP00000442831.1:p.Thr175Ile | |
| ENST00000537332.2:c.539C>T | ENSP00000444198.2:p.Thr180Ile | |
| ENST00000618718.1:c.476+48C>T | ENSP00000479918.1:n.476+48C>T | |
| NM_001168388.2:c.524C>T | NP_001161860.1:p.Thr175Ile | |
| NM_001168389.2:c.539C>T | NP_001161861.2:p.Thr180Ile | |
| NM_006079.4:c.524C>T | NP_006070.2:p.Thr175Ile | |
| NM_006079.5:c.524C>T MANE Select | NP_006070.2:p.Thr175Ile | |
| NM_001168388.3:c.524C>T | NP_001161860.1:p.Thr175Ile | |
| NM_001168389.3:c.539C>T | NP_001161861.2:p.Thr180Ile |