Linked Data
ClinVar Variation Id:
359691
ClinVar RCV Id:
RCV000398514
dbSNP Id:
rs545264816
gnomAD v2:
7-21934603-T-C
gnomAD v3:
7-21894985-T-C
gnomAD v4:
7-21894985-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21894985T>C , CM000669.2:g.21894985T>C | GRCh38 |
| NC_000007.13:g.21934603T>C , CM000669.1:g.21934603T>C | GRCh37 |
| NC_000007.12:g.21901128T>C | NCBI36 |
| NG_012886.2:g.356771T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.13035T>C MANE Select | ENSP00000475939.1:p.Tyr4345= | |
| ENST00000328843.10:c.13056T>C | ENSP00000330671.7:p.Tyr4352= | |
| ENST00000409508.7:c.13035T>C | ENSP00000475939.1:p.Tyr4345= | |
| ENST00000479878.1:n.406T>C | ||
| ENST00000620169.4:c.13056T>C | ENSP00000481693.1:p.Tyr4352= | |
| NM_001277115.1:c.13035T>C | NP_001264044.1:p.Tyr4345= | |
| NM_001277115.2:c.13035T>C MANE Select | NP_001264044.1:p.Tyr4345= |