Linked Data
ClinVar Variation Id:
2052973
ClinVar RCV Id:
RCV002937855
dbSNP Id:
rs376698368
ExAC:
5:10256053 T / C
gnomAD v2:
5-10256053-T-C
gnomAD v3:
5-10255941-T-C
gnomAD v4:
5-10255941-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10255941T>C , CM000667.2:g.10255941T>C | GRCh38 |
| NC_000005.9:g.10256053T>C , CM000667.1:g.10256053T>C | GRCh37 |
| NC_000005.8:g.10309053T>C | NCBI36 |
| NG_012160.1:g.10772T>C , LRG_361:g.10772T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.332-14T>C MANE Select | ENSP00000280326.4:n.332-14T>C | |
| ENST00000280326.8:c.332-14T>C | ENSP00000280326.4:n.332-14T>C | |
| ENST00000423695.6:n.128-2170T>C | ||
| ENST00000503026.5:c.269-14T>C | ENSP00000423318.1:n.269-14T>C | |
| ENST00000503454.5:c.221-14T>C | ||
| ENST00000506600.1:c.53-14T>C | ENSP00000423052.1:n.53-14T>C | |
| ENST00000511700.1:c.247-14T>C | ENSP00000423087.1:n.247-14T>C | |
| ENST00000512975.5:c.106-2170T>C | ENSP00000425751.1:n.106-2170T>C | |
| ENST00000515390.5:c.167-14T>C | ENSP00000426923.1:n.167-14T>C | |
| ENST00000515676.5:c.218-14T>C | ENSP00000427297.1:n.218-14T>C | |
| ENST00000625723.1:c.106-2170T>C | ENSP00000487128.1:n.106-2170T>C | |
| NM_001306153.1:c.269-14T>C | NP_001293082.1:n.269-14T>C | |
| NM_001306154.1:c.167-14T>C | NP_001293083.1:n.167-14T>C | |
| NM_001306155.1:c.53-14T>C | NP_001293084.1:n.53-14T>C | |
| NM_001306156.1:c.218-14T>C | NP_001293085.1:n.218-14T>C | |
| NM_012073.3:c.332-14T>C , LRG_361t1:c.332-14T>C | NP_036205.1:n.332-14T>C | |
| NM_012073.4:c.332-14T>C | NP_036205.1:n.332-14T>C | |
| NM_012073.5:c.332-14T>C MANE Select | NP_036205.1:n.332-14T>C | |
| NM_001306154.2:c.167-14T>C | NP_001293083.1:n.167-14T>C | |
| NM_001306155.2:c.53-14T>C | NP_001293084.1:n.53-14T>C | |
| NM_001306156.2:c.218-14T>C | NP_001293085.1:n.218-14T>C |