Linked Data
ClinVar Variation Id:
747436
ClinVar RCV Id:
RCV000924144
dbSNP Id:
rs567508164
ExAC:
11:67353934 G / A
gnomAD v2:
11-67353934-G-A
gnomAD v3:
11-67586463-G-A
gnomAD v4:
11-67586463-G-A
COSMIC:
COSM931130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586463G>A , CM000673.2:g.67586463G>A | GRCh38 |
| NC_000011.9:g.67353934G>A , CM000673.1:g.67353934G>A | GRCh37 |
| NC_000011.8:g.67110510G>A | NCBI36 |
| NG_012075.1:g.7869G>A , LRG_723:g.7869G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.411G>A | ENSP00000381604.1:p.Ala137= | |
| ENST00000398606.10:c.519G>A MANE Select | ENSP00000381607.3:p.Ala173= | |
| ENST00000646888.1:c.*235G>A | ENSP00000494477.1:n.*235G>A | |
| ENST00000398603.5:c.411G>A | ENSP00000381604.1:p.Ala137= | |
| ENST00000398606.7:c.519G>A | ENSP00000381607.3:p.Ala173= | |
| ENST00000467591.1:n.630G>A | ||
| ENST00000494593.1:n.1491G>A | ||
| ENST00000498765.5:c.582G>A | ||
| NM_000852.3:c.519G>A , LRG_723t1:c.519G>A | NP_000843.1:p.Ala173= | |
| NM_000852.4:c.519G>A MANE Select | NP_000843.1:p.Ala173= |