Linked Data
ClinVar Variation Id:
2996452
ClinVar RCV Id:
RCV003856603
dbSNP Id:
rs533376430
ExAC:
14:51081082 T / G
gnomAD v2:
14-51081082-T-G
gnomAD v3:
14-50614364-T-G
gnomAD v4:
14-50614364-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50614364T>G , CM000676.2:g.50614364T>G | GRCh38 |
| NC_000014.8:g.51081082T>G , CM000676.1:g.51081082T>G | GRCh37 |
| NC_000014.7:g.50150832T>G | NCBI36 |
| NG_009028.1:g.86283T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.724-9T>G | ENSP00000450989.2:n.724-9T>G | |
| ENST00000556478.3:c.724-9T>G | ENSP00000501428.2:n.724-9T>G | |
| ENST00000682037.1:c.724-9T>G | ENSP00000508289.1:n.724-9T>G | |
| ENST00000682219.1:n.2062-9T>G | ||
| ENST00000682487.1:n.1058-9T>G | ||
| ENST00000683037.1:n.645-9T>G | ||
| ENST00000683330.1:n.1058-9T>G | ||
| ENST00000683837.1:n.1058-9T>G | ||
| ENST00000358385.12:c.724-9T>G MANE Select | ENSP00000351155.7:n.724-9T>G | |
| ENST00000674288.1:c.*2016-9T>G | ENSP00000501522.1:n.*2016-9T>G | |
| ENST00000358385.10:c.724-9T>G | ENSP00000351155.6:n.724-9T>G | |
| ENST00000441560.6:c.724-9T>G | ENSP00000413675.2:n.724-9T>G | |
| NM_001127713.1:c.724-9T>G | NP_001121185.1:n.724-9T>G | |
| NM_015915.4:c.724-9T>G | NP_056999.2:n.724-9T>G | |
| NM_181598.3:c.724-9T>G | NP_853629.2:n.724-9T>G | |
| NM_015915.5:c.724-9T>G MANE Select | NP_056999.2:n.724-9T>G | |
| NM_181598.4:c.724-9T>G | NP_853629.2:n.724-9T>G |