Linked Data
ClinVar Variation Id:
2272248
ClinVar RCV Id:
RCV004125966
dbSNP Id:
rs201880614
ExAC:
19:48848556 G / A
gnomAD v2:
19-48848556-G-A
gnomAD v3:
19-48345299-G-A
gnomAD v4:
19-48345299-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48345299G>A , CM000681.2:g.48345299G>A | GRCh38 |
| NC_000019.9:g.48848556G>A , CM000681.1:g.48848556G>A | GRCh37 |
| NC_000019.8:g.53540368G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293261.8:c.425C>T MANE Select | ENSP00000293261.2:p.Thr142Met | |
| ENST00000293261.7:c.425C>T | ENSP00000293261.2:p.Thr142Met | |
| ENST00000377431.6:c.265-1848C>T | ENSP00000366649.1:n.265-1848C>T | |
| ENST00000435956.7:c.320C>T | ENSP00000397038.2:p.Thr107Met | |
| ENST00000595720.5:n.390-1848C>T | ||
| ENST00000597370.5:c.*288C>T | ENSP00000472952.1:n.*288C>T | |
| ENST00000598258.5:n.211C>T | ||
| ENST00000598926.5:c.370-1848C>T | ENSP00000471875.1:n.370-1848C>T | |
| ENST00000599220.1:c.*208C>T | ENSP00000471640.1:n.*208C>T | |
| ENST00000601332.5:n.283-1848C>T | ||
| ENST00000601522.1:c.380C>T | ENSP00000470195.1:p.Thr127Met | |
| NM_001303538.1:c.320C>T | NP_001290467.1:p.Thr107Met | |
| NM_001303539.1:c.370-1848C>T | NP_001290468.1:n.370-1848C>T | |
| NM_001303540.1:c.265-1848C>T | NP_001290469.1:n.265-1848C>T | |
| NM_018273.3:c.425C>T | NP_060743.2:p.Thr142Met | |
| NR_130317.1:n.396C>T | ||
| NM_018273.4:c.425C>T MANE Select | NP_060743.2:p.Thr142Met | |
| NM_001303538.2:c.320C>T | NP_001290467.1:p.Thr107Met | |
| NM_001303539.2:c.370-1848C>T | NP_001290468.1:n.370-1848C>T | |
| NM_001303540.2:c.265-1848C>T | NP_001290469.1:n.265-1848C>T | |
| NR_130317.2:n.99C>T |