Linked Data
ClinVar Variation Id:
2347652
dbSNP Id:
rs751536472
ExAC:
1:180772578 C / T
gnomAD v2:
1-180772578-C-T
gnomAD v3:
1-180803442-C-T
gnomAD v4:
1-180803442-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180803442C>T , CM000663.2:g.180803442C>T | GRCh38 |
| NC_000001.10:g.180772578C>T , CM000663.1:g.180772578C>T | GRCh37 |
| NC_000001.9:g.179039201C>T | NCBI36 |
| NG_050964.1:g.176433C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367590.9:c.278C>T MANE Select | ENSP00000356562.4:p.Ser93Leu | |
| ENST00000367589.3:c.278C>T | ENSP00000356561.3:p.Ser93Leu | |
| ENST00000367590.8:c.278C>T | ENSP00000356562.4:p.Ser93Leu | |
| NM_001135669.1:c.278C>T | NP_001129141.1:p.Ser93Leu | |
| NM_004736.3:c.278C>T | NP_004727.2:p.Ser93Leu | |
| NM_001328662.1:c.278C>T | NP_001315591.1:p.Ser93Leu | |
| NR_137330.1:n.470C>T | ||
| NM_001135669.2:c.278C>T | NP_001129141.1:p.Ser93Leu | |
| NM_001328662.2:c.278C>T | NP_001315591.1:p.Ser93Leu | |
| NM_004736.4:c.278C>T MANE Select | NP_004727.2:p.Ser93Leu | |
| NR_137330.2:n.458C>T |