Linked Data
ClinVar Variation Id:
1919527
ClinVar RCV Id:
RCV002594866
dbSNP Id:
rs755718589
ExAC:
6:10877440 G / A
gnomAD v2:
6-10877440-G-A
gnomAD v3:
6-10877207-G-A
gnomAD v4:
6-10877207-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10877207G>A , CM000668.2:g.10877207G>A | GRCh38 |
| NC_000006.11:g.10877440G>A , CM000668.1:g.10877440G>A | GRCh37 |
| NC_000006.10:g.10985426G>A | NCBI36 |
| NG_008970.1:g.9659C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379491.5:c.276C>T MANE Select | ENSP00000368805.4:p.Thr92= | |
| ENST00000379491.4:c.276C>T | ENSP00000368805.4:p.Thr92= | |
| ENST00000480294.1:c.101-14306G>A | ENSP00000417929.1:n.101-14306G>A | |
| NM_004752.3:c.276C>T | NP_004743.1:p.Thr92= | |
| XM_011514991.1:c.276C>T | XP_011513293.1:p.Thr92= | |
| NM_004752.4:c.276C>T MANE Select | NP_004743.1:p.Thr92= |