Linked Data
ClinVar Variation Id:
2143239
ClinVar RCV Id:
RCV003076623
dbSNP Id:
rs765128083
ExAC:
6:3155057 G / A
gnomAD v2:
6-3155057-G-A
gnomAD v3:
6-3154823-G-A
gnomAD v4:
6-3154823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154823G>A , CM000668.2:g.3154823G>A | GRCh38 |
| NC_000006.11:g.3155057G>A , CM000668.1:g.3155057G>A | GRCh37 |
| NC_000006.10:g.3100056G>A | NCBI36 |
| NG_042223.1:g.7727C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.378C>T MANE Select | ENSP00000369703.2:p.Ser126= | |
| ENST00000679400.1:n.434C>T | ||
| ENST00000679907.1:n.766C>T | ||
| ENST00000680036.1:n.1160C>T | ||
| ENST00000680967.1:n.1468C>T | ||
| ENST00000333628.3:c.378C>T | ENSP00000369703.2:p.Ser126= | |
| ENST00000489942.1:n.573C>T | ||
| NM_001069.2:c.378C>T | NP_001060.1:p.Ser126= | |
| NM_001310315.1:c.123C>T | NP_001297244.1:p.Ser41= | |
| NM_001069.3:c.378C>T MANE Select | NP_001060.1:p.Ser126= | |
| NM_001310315.2:c.123C>T | NP_001297244.1:p.Ser41= |