Linked Data
ClinVar Variation Id:
2673157
ClinVar RCV Id:
RCV003457543
dbSNP Id:
rs747838229
ExAC:
8:105503594 G / A
gnomAD v2:
8-105503594-G-A
gnomAD v4:
8-104491366-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104491366G>A , CM000670.2:g.104491366G>A | GRCh38 |
| NC_000008.10:g.105503594G>A , CM000670.1:g.105503594G>A | GRCh37 |
| NC_000008.9:g.105572770G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276654.10:c.1887C>T MANE Select | ENSP00000276654.5:p.Val629= | |
| ENST00000276654.9:c.1887C>T | ENSP00000276654.5:p.Val629= | |
| ENST00000424843.6:c.1830C>T | ENSP00000399148.2:p.Val610= | |
| ENST00000518375.1:n.1240C>T | ||
| NM_001135703.2:c.1830C>T | NP_001129175.1:p.Val610= | |
| NM_013437.4:c.1887C>T | NP_038465.1:p.Val629= | |
| NM_001135703.3:c.1830C>T | NP_001129175.1:p.Val610= | |
| NM_013437.5:c.1887C>T MANE Select | NP_038465.1:p.Val629= |