Linked Data
ClinVar Variation Id:
366503
ClinVar RCV Id:
RCV000373019
dbSNP Id:
rs146530591
gnomAD v2:
9-27548060-G-A
gnomAD v3:
9-27548062-G-A
gnomAD v4:
9-27548062-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27548062G>A , CM000671.2:g.27548062G>A | GRCh38 |
| NC_000009.11:g.27548060G>A , CM000671.1:g.27548060G>A | GRCh37 |
| NC_000009.10:g.27538060G>A | NCBI36 |
| NG_031977.1:g.30805C>T | |
| NG_031977.2:g.30805C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380003.8:c.*174C>T MANE Select | ENSP00000369339.3:n.*174C>T | |
| ENST00000619707.5:c.*174C>T | ENSP00000482753.1:n.*174C>T | |
| ENST00000644136.1:c.*174C>T | ENSP00000494872.1:n.*174C>T | |
| ENST00000673600.1:c.*267+53C>T | ENSP00000500650.1:n.*267+53C>T | |
| ENST00000380003.7:c.*174C>T | ENSP00000369339.3:n.*174C>T | |
| ENST00000488117.5:n.3301C>T | ||
| ENST00000619707.4:c.*174C>T | ENSP00000482753.1:n.*174C>T | |
| NM_001256054.2:c.*174C>T | NP_001242983.1:n.*174C>T | |
| NM_018325.4:c.*174C>T | NP_060795.1:n.*174C>T | |
| NM_018325.5:c.*174C>T MANE Select | NP_060795.1:n.*174C>T | |
| NM_001256054.3:c.*174C>T | NP_001242983.1:n.*174C>T |