Linked Data
ClinVar Variation Id:
454664
ClinVar RCV Id:
RCV000560090
dbSNP Id:
rs183509559
ExAC:
7:21611584 C / G
gnomAD v2:
7-21611584-C-G
gnomAD v3:
7-21571966-C-G
gnomAD v4:
7-21571966-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21571966C>G , CM000669.2:g.21571966C>G | GRCh38 |
| NC_000007.13:g.21611584C>G , CM000669.1:g.21611584C>G | GRCh37 |
| NC_000007.12:g.21578109C>G | NCBI36 |
| NG_012886.2:g.33752C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.1586C>G MANE Select | ENSP00000475939.1:p.Thr529Ser | |
| ENST00000328843.10:c.1586C>G | ENSP00000330671.7:p.Thr529Ser | |
| ENST00000409508.7:c.1586C>G | ENSP00000475939.1:p.Thr529Ser | |
| ENST00000620169.4:c.1586C>G | ENSP00000481693.1:p.Thr529Ser | |
| NM_001277115.1:c.1586C>G | NP_001264044.1:p.Thr529Ser | |
| XR_927090.1:n.563+1360G>C | ||
| XR_001745114.1:n.2793+1360G>C | ||
| NM_001277115.2:c.1586C>G MANE Select | NP_001264044.1:p.Thr529Ser |