Linked Data
ClinVar Variation Id:
3178817
ClinVar RCV Id:
RCV004475189
dbSNP Id:
rs750428394
ExAC:
19:48863423 G / A
gnomAD v2:
19-48863423-G-A
gnomAD v3:
19-48360166-G-A
gnomAD v4:
19-48360166-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48360166G>A , CM000681.2:g.48360166G>A | GRCh38 |
| NC_000019.9:g.48863423G>A , CM000681.1:g.48863423G>A | GRCh37 |
| NC_000019.8:g.53555235G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293261.8:c.275C>T MANE Select | ENSP00000293261.2:p.Ser92Leu | |
| ENST00000293261.7:c.275C>T | ENSP00000293261.2:p.Ser92Leu | |
| ENST00000377431.6:c.264+3125C>T | ENSP00000366649.1:n.264+3125C>T | |
| ENST00000435956.7:c.264+3125C>T | ENSP00000397038.2:n.264+3125C>T | |
| ENST00000593914.5:n.293C>T | ||
| ENST00000595720.5:n.295C>T | ||
| ENST00000597370.5:c.*232+153C>T | ENSP00000472952.1:n.*232+153C>T | |
| ENST00000598258.5:n.61C>T | ||
| ENST00000598926.5:c.275C>T | ENSP00000471875.1:p.Ser92Leu | |
| ENST00000599220.1:c.*58C>T | ENSP00000471640.1:n.*58C>T | |
| ENST00000601332.5:n.282+3125C>T | ||
| ENST00000601522.1:c.230C>T | ENSP00000470195.1:p.Ser77Leu | |
| NM_001303538.1:c.264+3125C>T | NP_001290467.1:n.264+3125C>T | |
| NM_001303539.1:c.275C>T | NP_001290468.1:p.Ser92Leu | |
| NM_001303540.1:c.264+3125C>T | NP_001290469.1:n.264+3125C>T | |
| NM_018273.3:c.275C>T | NP_060743.2:p.Ser92Leu | |
| NR_130317.1:n.340+3732C>T | ||
| NM_018273.4:c.275C>T MANE Select | NP_060743.2:p.Ser92Leu | |
| NM_001303538.2:c.264+3125C>T | NP_001290467.1:n.264+3125C>T | |
| NM_001303539.2:c.275C>T | NP_001290468.1:p.Ser92Leu | |
| NM_001303540.2:c.264+3125C>T | NP_001290469.1:n.264+3125C>T | |
| NR_130317.2:n.43+3732C>T |