Linked Data
ClinVar Variation Id:
66520
ClinVar RCV Id:
RCV000056924
dbSNP Id:
rs201942002
ExAC:
12:53291204 G / A
gnomAD v2:
12-53291204-G-A
gnomAD v3:
12-52897420-G-A
gnomAD v4:
12-52897420-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52897420G>A , CM000674.2:g.52897420G>A | GRCh38 |
| NC_000012.11:g.53291204G>A , CM000674.1:g.53291204G>A | GRCh37 |
| NC_000012.10:g.51577471G>A | NCBI36 |
| NG_008402.1:g.12665C>T | |
| NG_008402.2:g.57447C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692008.1:c.*8C>T MANE Select | ENSP00000509398.1:n.*8C>T | |
| ENST00000293308.11:c.*8C>T | ENSP00000293308.6:n.*8C>T | |
| ENST00000546583.5:n.2650C>T | ||
| ENST00000546897.5:c.*8C>T | ENSP00000447402.1:n.*8C>T | |
| ENST00000550170.5:n.1998C>T | ||
| ENST00000552150.5:c.*8C>T | ENSP00000449404.1:n.*8C>T | |
| ENST00000552551.5:c.*8C>T | ENSP00000447566.1:n.*8C>T | |
| NM_001256282.1:c.*8C>T | NP_001243211.1:n.*8C>T | |
| NM_001256293.1:c.*8C>T | NP_001243222.1:n.*8C>T | |
| NM_002273.3:c.*8C>T | NP_002264.1:n.*8C>T | |
| NR_045962.1:n.1917C>T | ||
| NM_001256282.2:c.*8C>T | NP_001243211.1:n.*8C>T | |
| NM_001256293.2:c.*8C>T | NP_001243222.1:n.*8C>T | |
| NM_002273.4:c.*8C>T MANE Select | NP_002264.1:n.*8C>T | |
| NR_045962.2:n.1911C>T |