Linked Data
ClinVar Variation Id:
1133979
ClinVar RCV Id:
RCV001468723
dbSNP Id:
rs1348538791
gnomAD v2:
2-113818474-G-A
gnomAD v4:
2-113060897-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113060897G>A , CM000664.2:g.113060897G>A | GRCh38 |
| NC_000002.11:g.113818474G>A , CM000664.1:g.113818474G>A | GRCh37 |
| NC_000002.10:g.113534945G>A | NCBI36 |
| NG_031864.1:g.7260G>A , LRG_730:g.7260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437409.2:c.75G>A | ENSP00000409262.2:p.Gln25= | |
| ENST00000393200.7:c.75G>A MANE Select | ENSP00000376896.2:p.Gln25= | |
| ENST00000346807.7:c.75G>A | ENSP00000259212.3:p.Gln25= | |
| ENST00000393200.6:c.75G>A | ENSP00000376896.2:p.Gln25= | |
| ENST00000437409.1:c.75G>A | ENSP00000409262.1:p.Gln25= | |
| NM_012275.2:c.75G>A , LRG_730t2:c.75G>A | NP_036407.1:p.Gln25= | |
| NM_173170.1:c.75G>A , LRG_730t1:c.75G>A | NP_775262.1:p.Gln25= | |
| NM_012275.3:c.75G>A MANE Select | NP_036407.1:p.Gln25= |