Linked Data
ClinVar Variation Id:
207215
ClinVar RCV Id:
RCV000189381
RCV000687947
RCV003445672
RCV003445668
RCV003445670
RCV003445669
RCV003445671
dbSNP Id:
rs572648977
ExAC:
1:43392783 C / T
gnomAD v2:
1-43392783-C-T
gnomAD v3:
1-42927112-C-T
gnomAD v4:
1-42927112-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927112C>T , CM000663.2:g.42927112C>T | GRCh38 |
| NC_000001.10:g.43392783C>T , CM000663.1:g.43392783C>T | GRCh37 |
| NC_000001.9:g.43165370C>T | NCBI36 |
| NG_008232.1:g.37065G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1408G>A MANE Select | ENSP00000416293.2:p.Gly470Arg | |
| ENST00000674545.1:n.2025G>A | ||
| ENST00000674765.1:c.1030-255G>A | ENSP00000501811.1:n.1030-255G>A | |
| ENST00000675112.1:n.1709G>A | ||
| ENST00000676254.1:n.1857G>A | ||
| ENST00000426263.7:c.1408G>A | ENSP00000416293.2:p.Gly470Arg | |
| ENST00000475162.3:c.416-134G>A | ||
| ENST00000630287.2:c.*723G>A | ENSP00000486694.1:n.*723G>A | |
| NM_006516.2:c.1408G>A | NP_006507.2:p.Gly470Arg | |
| NM_006516.3:c.1408G>A | NP_006507.2:p.Gly470Arg | |
| NM_006516.4:c.1408G>A MANE Select | NP_006507.2:p.Gly470Arg |