Linked Data
ClinVar Variation Id:
2888368
ClinVar RCV Id:
RCV003610785
dbSNP Id:
rs903149710
gnomAD v4:
14-87934741-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87934741G>T , CM000676.2:g.87934741G>T | GRCh38 |
| NC_000014.8:g.88401085G>T , CM000676.1:g.88401085G>T | GRCh37 |
| NC_000014.7:g.87470838G>T | NCBI36 |
| NG_011853.2:g.63823C>A | |
| NG_011853.3:g.63823C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.2049C>A MANE Select | ENSP00000261304.2:p.Ala683= | |
| ENST00000261304.6:c.2049C>A | ENSP00000261304.2:p.Ala683= | |
| ENST00000393568.8:c.1980C>A | ENSP00000377198.4:p.Ala660= | |
| ENST00000393569.6:c.1971C>A | ENSP00000377199.2:p.Ala657= | |
| ENST00000544807.6:c.1744-742C>A | ENSP00000437513.2:n.1744-742C>A | |
| ENST00000555000.5:c.1279-742C>A | ENSP00000450472.1:n.1279-742C>A | |
| NM_000153.3:c.2049C>A | NP_000144.2:p.Ala683= | |
| NM_001201401.1:c.1980C>A | NP_001188330.1:p.Ala660= | |
| NM_001201402.1:c.1971C>A | NP_001188331.1:p.Ala657= | |
| XM_011536618.1:c.1881C>A | XP_011534920.1:p.Ala627= | |
| XM_011536618.2:c.1881C>A | XP_011534920.1:p.Ala627= | |
| NM_000153.4:c.2049C>A MANE Select | NP_000144.2:p.Ala683= | |
| NM_001201401.2:c.1980C>A | NP_001188330.1:p.Ala660= | |
| NM_001201402.2:c.1971C>A | NP_001188331.1:p.Ala657= |