Linked Data
ClinVar Variation Id:
1650444
ClinVar RCV Id:
RCV002144495
dbSNP Id:
rs768994784
ExAC:
7:152345847 G / A
gnomAD v2:
7-152345847-G-A
gnomAD v4:
7-152648762-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648762G>A , CM000669.2:g.152648762G>A | GRCh38 |
| NC_000007.13:g.152345847G>A , CM000669.1:g.152345847G>A | GRCh37 |
| NC_000007.12:g.151976780G>A | NCBI36 |
| NG_027988.1:g.32404C>T | |
| NG_027988.2:g.32404C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.555C>T | ENSP00000513758.1:p.Phe185= | |
| ENST00000359321.2:c.723C>T MANE Select | ENSP00000352271.1:p.Phe241= | |
| ENST00000359321.1:c.723C>T | ENSP00000352271.1:p.Phe241= | |
| ENST00000495707.1:n.745C>T | ||
| NM_005431.1:c.723C>T | NP_005422.1:p.Phe241= | |
| NM_005431.2:c.723C>T MANE Select | NP_005422.1:p.Phe241= |