Linked Data
ClinVar Variation Id:
2743324
ClinVar RCV Id:
RCV003535500
dbSNP Id:
rs768979467
ExAC:
7:21658752 C / T
gnomAD v2:
7-21658752-C-T
gnomAD v4:
7-21619134-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21619134C>T , CM000669.2:g.21619134C>T | GRCh38 |
| NC_000007.13:g.21658752C>T , CM000669.1:g.21658752C>T | GRCh37 |
| NC_000007.12:g.21625277C>T | NCBI36 |
| NG_012886.2:g.80920C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4289C>T MANE Select | ENSP00000475939.1:p.Ala1430Val | |
| ENST00000328843.10:c.4304C>T | ENSP00000330671.7:p.Ala1435Val | |
| ENST00000409508.7:c.4289C>T | ENSP00000475939.1:p.Ala1430Val | |
| ENST00000465593.1:n.315C>T | ||
| ENST00000620169.4:c.4304C>T | ENSP00000481693.1:p.Ala1435Val | |
| NM_001277115.1:c.4289C>T | NP_001264044.1:p.Ala1430Val | |
| NM_001277115.2:c.4289C>T MANE Select | NP_001264044.1:p.Ala1430Val |