Linked Data
ClinVar Variation Id:
356548
ClinVar RCV Id:
RCV000264820
dbSNP Id:
rs139570565
gnomAD v2:
6-35791521-G-A
gnomAD v3:
6-35823744-G-A
gnomAD v4:
6-35823744-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823744G>A , CM000668.2:g.35823744G>A | GRCh38 |
| NC_000006.11:g.35791521G>A , CM000668.1:g.35791521G>A | GRCh37 |
| NC_000006.10:g.35899499G>A | NCBI36 |
| NG_012184.1:g.23451G>A | |
| NG_012184.2:g.23451G>A | |
| NG_012184.3:g.31539G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*779G>A MANE Select | ENSP00000353346.1:n.*779G>A | |
| ENST00000496656.2:n.578+3924G>A | ||
| ENST00000651132.1:c.*779G>A | ENSP00000498322.1:n.*779G>A | |
| ENST00000651676.1:c.*16+4281G>A | ENSP00000498699.1:n.*16+4281G>A | |
| ENST00000651994.1:c.*859G>A | ENSP00000498310.1:n.*859G>A | |
| ENST00000652718.1:c.508+4281G>A | ENSP00000498866.1:n.508+4281G>A | |
| ENST00000360215.2:c.*779G>A | ENSP00000353346.1:n.*779G>A | |
| ENST00000496656.1:n.812+3924G>A | ||
| NM_182548.3:c.*779G>A | NP_872354.1:n.*779G>A | |
| NM_182548.4:c.*779G>A MANE Select | NP_872354.1:n.*779G>A |