Linked Data
ClinVar Variation Id:
516128
dbSNP Id:
rs372912362
ExAC:
11:2799203 T / C
gnomAD v2:
11-2799203-T-C
gnomAD v3:
11-2777973-T-C
gnomAD v4:
11-2777973-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2777973T>C , CM000673.2:g.2777973T>C | GRCh38 |
| NC_000011.9:g.2799203T>C , CM000673.1:g.2799203T>C | GRCh37 |
| NC_000011.8:g.2755779T>C | NCBI36 |
| NG_008935.1:g.337983T>C , LRG_287:g.337983T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1376-3T>C | ENSP00000434560.2:n.1376-3T>C | |
| ENST00000646564.2:c.1193-3T>C | ENSP00000495806.2:n.1193-3T>C | |
| ENST00000155840.12:c.1733-3T>C MANE Select | ENSP00000155840.2:n.1733-3T>C | |
| ENST00000335475.6:c.1352-3T>C | ENSP00000334497.5:n.1352-3T>C | |
| ENST00000526095.2:c.137-3T>C | ENSP00000494939.1:n.137-3T>C | |
| ENST00000646564.1:c.839-3T>C | ENSP00000495806.1:n.839-3T>C | |
| ENST00000155840.9:c.1733-3T>C | ENSP00000155840.2:n.1733-3T>C | |
| ENST00000335475.5:c.1352-3T>C | ENSP00000334497.5:n.1352-3T>C | |
| ENST00000526095.1:n.240-3T>C | ||
| NM_000218.2:c.1733-3T>C , LRG_287t1:c.1733-3T>C | NP_000209.2:n.1733-3T>C | |
| NM_181798.1:c.1352-3T>C , LRG_287t2:c.1352-3T>C | NP_861463.1:n.1352-3T>C | |
| NM_000218.3:c.1733-3T>C MANE Select | NP_000209.2:n.1733-3T>C |