Linked Data
ClinVar Variation Id:
748833
ClinVar RCV Id:
RCV001460889
dbSNP Id:
rs753895623
ExAC:
9:6556228 G / A
gnomAD v2:
9-6556228-G-A
gnomAD v4:
9-6556228-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556228G>A , CM000671.2:g.6556228G>A | GRCh38 |
| NC_000009.11:g.6556228G>A , CM000671.1:g.6556228G>A | GRCh37 |
| NC_000009.10:g.6546228G>A | NCBI36 |
| NG_016397.1:g.94465C>T , LRG_643:g.94465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2127C>T MANE Select | ENSP00000370737.4:p.Asn709= | |
| ENST00000638233.1:n.562C>T | ||
| ENST00000638661.1:c.327C>T | ENSP00000491369.1:p.Asn109= | |
| ENST00000638694.1:n.314C>T | ||
| ENST00000639318.1:c.327C>T | ENSP00000491932.1:p.Asn109= | |
| ENST00000639364.1:n.1827C>T | ||
| ENST00000639443.1:n.1695C>T | ||
| ENST00000639954.1:n.1835C>T | ||
| ENST00000640505.1:n.366C>T | ||
| ENST00000321612.6:c.2127C>T | ENSP00000370737.3:p.Asn709= | |
| NM_000170.2:c.2127C>T , LRG_643t1:c.2127C>T | NP_000161.2:p.Asn709= | |
| NM_000170.3:c.2127C>T MANE Select | NP_000161.2:p.Asn709= |