Linked Data
ClinVar Variation Id:
1259043
ClinVar RCV Id:
RCV001659280
dbSNP Id:
rs3134942
ExAC:
6:32168771 G / T
gnomAD v2:
6-32168771-G-T
gnomAD v3:
6-32200994-G-T
gnomAD v4:
6-32200994-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32200994G>T , CM000668.2:g.32200994G>T | GRCh38 |
| NC_000006.11:g.32168771G>T , CM000668.1:g.32168771G>T | GRCh37 |
| NC_000006.10:g.32276749G>T | NCBI36 |
| NG_028190.1:g.28074C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375023.3:c.4152C>A MANE Select | ENSP00000364163.3:p.Val1384= | |
| ENST00000474612.1:n.2813C>A | ||
| NM_004557.3:c.4152C>A | NP_004548.3:p.Val1384= | |
| NR_134949.1:n.3869C>A | ||
| NR_134950.1:n.3767C>A | ||
| NM_004557.4:c.4152C>A MANE Select | NP_004548.3:p.Val1384= | |
| NR_134949.2:n.3869C>A | ||
| NR_134950.2:n.3767C>A |