Linked Data
ClinVar Variation Id:
1084347
ClinVar RCV Id:
RCV001401330
dbSNP Id:
rs2102661513
gnomAD v4:
1-215671236-T-A
MyVariant Identifiers:
chr1:g.215844578T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215671236T>A , CM000663.2:g.215671236T>A | GRCh38 |
| NC_000001.10:g.215844578T>A , CM000663.1:g.215844578T>A | GRCh37 |
| NC_000001.9:g.213911201T>A | NCBI36 |
| NG_009497.1:g.757161A>T | |
| NG_009497.2:g.757213A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.13869A>T MANE Select | ENSP00000305941.3:p.Thr4623= | |
| ENST00000674083.1:c.13869A>T | ENSP00000501296.1:p.Thr4623= | |
| ENST00000307340.7:c.13869A>T | ENSP00000305941.3:p.Thr4623= | |
| NM_206933.2:c.13869A>T | NP_996816.2:p.Thr4623= | |
| NM_206933.3:c.13869A>T | NP_996816.2:p.Thr4623= | |
| NM_206933.4:c.13869A>T MANE Select | NP_996816.3:p.Thr4623= |