Linked Data
ClinVar Variation Id:
317914
ClinVar RCV Id:
RCV000347709
dbSNP Id:
rs556488187
gnomAD v2:
16-1495335-A-G
gnomAD v3:
16-1445334-A-G
gnomAD v4:
16-1445334-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1445334A>G , CM000678.2:g.1445334A>G | GRCh38 |
| NC_000016.9:g.1495335A>G , CM000678.1:g.1495335A>G | GRCh37 |
| NC_000016.8:g.1435336A>G | NCBI36 |
| NG_007567.1:g.34751T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382745.9:c.*1297T>C MANE Select | ENSP00000372193.4:n.*1297T>C | |
| ENST00000382745.8:c.*1297T>C | ENSP00000372193.4:n.*1297T>C | |
| ENST00000448525.5:c.*1297T>C | ENSP00000410907.1:n.*1297T>C | |
| ENST00000563642.6:n.3784T>C | ||
| NM_001114331.2:c.*1297T>C | NP_001107803.1:n.*1297T>C | |
| NM_001287.5:c.*1297T>C | NP_001278.1:n.*1297T>C | |
| XM_011522354.1:c.*1297T>C | XP_011520656.1:n.*1297T>C | |
| NM_001287.6:c.*1297T>C MANE Select | NP_001278.1:n.*1297T>C | |
| NM_001114331.3:c.*1297T>C | NP_001107803.1:n.*1297T>C |