Linked Data
ClinVar Variation Id:
1085480
ClinVar RCV Id:
RCV001402920
dbSNP Id:
rs1396131331
gnomAD v2:
1-216062299-G-T
gnomAD v3:
1-215888957-G-T
gnomAD v4:
1-215888957-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215888957G>T , CM000663.2:g.215888957G>T | GRCh38 |
| NC_000001.10:g.216062299G>T , CM000663.1:g.216062299G>T | GRCh37 |
| NC_000001.9:g.214128922G>T | NCBI36 |
| NG_009497.1:g.539440C>A | |
| NG_009497.2:g.539492C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.7692C>A MANE Select | ENSP00000305941.3:p.Thr2564= | |
| ENST00000674083.1:c.7692C>A | ENSP00000501296.1:p.Thr2564= | |
| ENST00000307340.7:c.7692C>A | ENSP00000305941.3:p.Thr2564= | |
| NM_206933.2:c.7692C>A | NP_996816.2:p.Thr2564= | |
| NM_206933.3:c.7692C>A | NP_996816.2:p.Thr2564= | |
| NM_206933.4:c.7692C>A MANE Select | NP_996816.3:p.Thr2564= |