Linked Data
ClinVar Variation Id:
1083255
ClinVar RCV Id:
RCV001399883
dbSNP Id:
rs752054425
ExAC:
1:216040377 T / A
gnomAD v2:
1-216040377-T-A
gnomAD v4:
1-215867035-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867035T>A , CM000663.2:g.215867035T>A | GRCh38 |
| NC_000001.10:g.216040377T>A , CM000663.1:g.216040377T>A | GRCh37 |
| NC_000001.9:g.214107000T>A | NCBI36 |
| NG_009497.1:g.561362A>T | |
| NG_009497.2:g.561414A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8817A>T MANE Select | ENSP00000305941.3:p.Thr2939= | |
| ENST00000674083.1:c.8817A>T | ENSP00000501296.1:p.Thr2939= | |
| ENST00000307340.7:c.8817A>T | ENSP00000305941.3:p.Thr2939= | |
| NM_206933.2:c.8817A>T | NP_996816.2:p.Thr2939= | |
| NM_206933.3:c.8817A>T | NP_996816.2:p.Thr2939= | |
| NM_206933.4:c.8817A>T MANE Select | NP_996816.3:p.Thr2939= |