Linked Data
ClinVar Variation Id:
512950
dbSNP Id:
rs755092575
ExAC:
2:189899879 G / A
gnomAD v2:
2-189899879-G-A
gnomAD v3:
2-189035153-G-A
gnomAD v4:
2-189035153-G-A
COSMIC:
COSM1013965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189035153G>A , CM000664.2:g.189035153G>A | GRCh38 |
| NC_000002.11:g.189899879G>A , CM000664.1:g.189899879G>A | GRCh37 |
| NC_000002.10:g.189608124G>A | NCBI36 |
| NG_011799.1:g.149727C>T | |
| NG_011799.2:g.149727C>T | |
| NG_011799.3:g.195149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4116C>T MANE Select | ENSP00000364000.3:p.Phe1372= | |
| ENST00000374866.7:c.4116C>T | ENSP00000364000.3:p.Phe1372= | |
| ENST00000618828.1:c.2955C>T | ENSP00000482184.1:p.Phe985= | |
| NM_000393.3:c.4116C>T | NP_000384.2:p.Phe1372= | |
| XM_011510573.1:c.3978C>T | XP_011508875.1:p.Phe1326= | |
| NM_000393.4:c.4116C>T | NP_000384.2:p.Phe1372= | |
| XM_011510573.3:c.3978C>T | XP_011508875.1:p.Phe1326= | |
| NM_000393.5:c.4116C>T MANE Select | NP_000384.2:p.Phe1372= |