Linked Data
ClinVar Variation Id:
2139650
ClinVar RCV Id:
RCV003066647
dbSNP Id:
rs996931893
gnomAD v4:
10-80274522-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80274522G>A , CM000672.2:g.80274522G>A | GRCh38 |
| NC_000010.10:g.82034278G>A , CM000672.1:g.82034278G>A | GRCh37 |
| NC_000010.9:g.82024258G>A | NCBI36 |
| NG_008083.1:g.20157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.1083C>T MANE Select | ENSP00000361287.3:p.Val361= | |
| ENST00000372213.7:c.1083C>T | ENSP00000361287.3:p.Val361= | |
| ENST00000480845.1:n.315C>T | ||
| ENST00000485270.5:n.595C>T | ||
| NM_000429.2:c.1083C>T | NP_000420.1:p.Val361= | |
| XM_005269842.3:c.1083C>T | XP_005269899.1:p.Val361= | |
| XM_005269843.3:c.960C>T | XP_005269900.1:p.Val320= | |
| NM_000429.3:c.1083C>T MANE Select | NP_000420.1:p.Val361= |