Linked Data
ClinVar Variation Id:
302601
ClinVar RCV Id:
RCV000405435
dbSNP Id:
rs190737124
ExAC:
11:118005522 C / A
gnomAD v2:
11-118005522-C-A
gnomAD v3:
11-118134807-C-A
gnomAD v4:
11-118134807-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118134807C>A , CM000673.2:g.118134807C>A | GRCh38 |
| NC_000011.9:g.118005522C>A , CM000673.1:g.118005522C>A | GRCh37 |
| NC_000011.8:g.117510732C>A | NCBI36 |
| NG_011710.1:g.23109G>T , LRG_330:g.23109G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.*2220G>T MANE Select | ENSP00000322460.4:n.*2220G>T | |
| ENST00000324727.8:c.*2220G>T | ENSP00000322460.4:n.*2220G>T | |
| ENST00000415030.6:n.3050G>T | ||
| ENST00000423160.2:n.2541G>T | ||
| NM_001142348.1:c.*2220G>T | NP_001135820.1:n.*2220G>T | |
| NM_001142349.1:c.*2220G>T | NP_001135821.1:n.*2220G>T | |
| NM_174934.3:c.*2220G>T , LRG_330t1:c.*2220G>T | NP_777594.1:n.*2220G>T | |
| NR_024527.1:n.2932G>T | ||
| NM_001142348.2:c.*2220G>T | NP_001135820.1:n.*2220G>T | |
| NM_001142349.2:c.*2220G>T | NP_001135821.1:n.*2220G>T | |
| NR_024527.2:n.2896G>T | ||
| NM_174934.4:c.*2220G>T MANE Select | NP_777594.1:n.*2220G>T |