Linked Data
ClinVar Variation Id:
2347900
ClinVar RCV Id:
RCV004182532
dbSNP Id:
rs202246429
ExAC:
7:74482605 G / A
gnomAD v2:
7-74482605-G-A
gnomAD v3:
7-75066792-G-A
gnomAD v4:
7-75066792-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75066792G>A , CM000669.2:g.75066792G>A | GRCh38 |
| NC_000007.13:g.74482605G>A , CM000669.1:g.74482605G>A | GRCh37 |
| NC_000007.12:g.74120541G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610322.5:c.455C>T MANE Select | ENSP00000480364.1:p.Thr152Met | |
| ENST00000610322.4:c.455C>T | ENSP00000480364.1:p.Thr152Met | |
| ENST00000614461.4:c.455C>T | ENSP00000477659.1:p.Thr152Met | |
| ENST00000615250.1:c.236C>T | ENSP00000477558.1:p.Thr79Met | |
| ENST00000616051.1:n.508C>T | ||
| ENST00000618035.4:c.455C>T | ENSP00000480781.1:p.Thr152Met | |
| NM_001281441.1:c.455C>T | NP_001268370.1:p.Thr152Met | |
| NM_030798.4:c.455C>T | NP_110425.2:p.Thr152Met | |
| NM_148842.2:c.455C>T | NP_683682.1:p.Thr152Met | |
| NM_001363447.1:c.56C>T | NP_001350376.1:p.Thr19Met | |
| NM_030798.5:c.455C>T MANE Select | NP_110425.2:p.Thr152Met | |
| NM_001363447.2:c.56C>T | NP_001350376.1:p.Thr19Met | |
| NM_001281441.2:c.455C>T | NP_001268370.1:p.Thr152Met | |
| NM_148842.3:c.455C>T | NP_683682.1:p.Thr152Met |