Linked Data
ClinVar Variation Id:
160189
dbSNP Id:
rs587784504
ExAC:
16:90002190 C / T
gnomAD v2:
16-90002190-C-T
gnomAD v3:
16-89935782-C-T
gnomAD v4:
16-89935782-C-T
COSMIC:
COSM1380594
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89935782C>T , CM000678.2:g.89935782C>T | GRCh38 |
| NC_000016.9:g.90002190C>T , CM000678.1:g.90002190C>T | GRCh37 |
| NC_000016.8:g.88529691C>T | NCBI36 |
| NG_027810.1:g.18774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315491.12:c.1331C>T MANE Select | ENSP00000320295.7:p.Ser444Leu | |
| ENST00000680788.1:n.4752C>T | ||
| ENST00000315491.11:c.1331C>T | ENSP00000320295.7:p.Ser444Leu | |
| ENST00000554444.5:c.1115C>T | ENSP00000451617.1:p.Ser372Leu | |
| ENST00000555576.5:c.277+2204C>T | ENSP00000452554.1:n.277+2204C>T | |
| ENST00000555609.5:c.*1416C>T | ENSP00000451276.1:n.*1416C>T | |
| ENST00000556922.1:c.2372C>T | ENSP00000451560.1:p.Ser791Leu | |
| NM_001197181.1:c.1115C>T | NP_001184110.1:p.Ser372Leu | |
| NM_006086.3:c.1331C>T | NP_006077.2:p.Ser444Leu | |
| NM_006086.4:c.1331C>T MANE Select | NP_006077.2:p.Ser444Leu | |
| NM_001197181.2:c.1115C>T | NP_001184110.1:p.Ser372Leu |