Linked Data
ClinVar Variation Id:
314742
ClinVar RCV Id:
RCV000294345
dbSNP Id:
rs3850376
gnomAD v2:
14-88400681-G-A
gnomAD v3:
14-87934337-G-A
gnomAD v4:
14-87934337-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87934337G>A , CM000676.2:g.87934337G>A | GRCh38 |
| NC_000014.8:g.88400681G>A , CM000676.1:g.88400681G>A | GRCh37 |
| NC_000014.7:g.87470434G>A | NCBI36 |
| NG_011853.2:g.64227C>T | |
| NG_011853.3:g.64227C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.*395C>T MANE Select | ENSP00000261304.2:n.*395C>T | |
| ENST00000261304.6:c.*395C>T | ENSP00000261304.2:n.*395C>T | |
| ENST00000393569.6:c.*395C>T | ENSP00000377199.2:n.*395C>T | |
| ENST00000544807.6:c.1744-338C>T | ENSP00000437513.2:n.1744-338C>T | |
| ENST00000555000.5:c.1279-338C>T | ENSP00000450472.1:n.1279-338C>T | |
| NM_000153.3:c.*395C>T | NP_000144.2:n.*395C>T | |
| NM_001201401.1:c.*395C>T | NP_001188330.1:n.*395C>T | |
| NM_001201402.1:c.*395C>T | NP_001188331.1:n.*395C>T | |
| XM_011536618.1:c.*395C>T | XP_011534920.1:n.*395C>T | |
| XM_011536618.2:c.*395C>T | XP_011534920.1:n.*395C>T | |
| NM_000153.4:c.*395C>T MANE Select | NP_000144.2:n.*395C>T | |
| NM_001201401.2:c.*395C>T | NP_001188330.1:n.*395C>T | |
| NM_001201402.2:c.*395C>T | NP_001188331.1:n.*395C>T |