Linked Data
ClinVar Variation Id:
1142633
ClinVar RCV Id:
RCV001480500
dbSNP Id:
rs770449168
ExAC:
4:178360004 T / C
gnomAD v2:
4-178360004-T-C
gnomAD v3:
4-177438850-T-C
gnomAD v4:
4-177438850-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177438850T>C , CM000666.2:g.177438850T>C | GRCh38 |
| NC_000004.11:g.178360004T>C , CM000666.1:g.178360004T>C | GRCh37 |
| NC_000004.10:g.178596998T>C | NCBI36 |
| NG_011845.2:g.8654A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.402A>G MANE Select | ENSP00000264595.2:p.Thr134= | |
| ENST00000264595.6:c.402A>G | ENSP00000264595.2:p.Thr134= | |
| ENST00000502310.5:c.57A>G | ENSP00000423798.1:p.Thr19= | |
| ENST00000506853.5:n.436A>G | ||
| ENST00000510635.1:c.98A>G | ||
| ENST00000510955.5:n.323A>G | ||
| NM_000027.3:c.402A>G | NP_000018.2:p.Thr134= | |
| NM_001171988.1:c.402A>G | NP_001165459.1:p.Thr134= | |
| NR_033655.1:n.530A>G | ||
| XM_006714123.2:c.402A>G | XP_006714186.1:p.Thr134= | |
| XR_001741155.2:n.496A>G | ||
| NM_000027.4:c.402A>G MANE Select | NP_000018.2:p.Thr134= | |
| NM_001171988.2:c.402A>G | NP_001165459.1:p.Thr134= | |
| NR_033655.2:n.464A>G |